### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACADM) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "ACADM" "acyl-CoA dehydrogenase medium chain" "1" "p31.1" "unknown" "NC_000001.10" "UD_146292815724" "" "" "" "1" "89" "34" "607008" "0" "0" "0" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00006" "2022-01-14 00:00:00" "00006" "2023-01-22 15:50:25" "00006" "2023-07-01 11:38:02" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000135" "ACADM" "acyl-CoA dehydrogenase, C-4 to C-12 straight chain, transcript variant 1" "002" "NM_000016.4" "" "NP_000007.1" "" "" "" "-430" "2173" "1266" "76190043" "76229355" "00006" "2022-01-14 10:27:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00009" "MCADD" "Medium-chain Acyl-CoA dehydrogenase deficiency" "" "607008" "liver" "" "" "00006" "2022-01-14 10:13:37" "" "" "00019" "WD" "wilson disease" "AR" "277900" "brain" "liver dysfunction, neurological features (like tremor, parkinsonism, dystornia, etc.), Kayser-Fleischer rings, chondrocalcinosis and osteoarthritis..." "low ceruloplasmin, Kayser-Fleischer rings, abnormalities of the basal ganglia..." "00009" "2023-08-21 15:46:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ACADM" "00009" "ACADM" "00019" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00009, 00019 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 56 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Type}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/classclinical}}" "0000016221" "0" "99" "1" "76190473" "76190473" "subst" "" "00006" "ACADM_000001" "g.76190473A>G" "1/130" "" "Substitution" "" "" "0000016222" "0" "55" "1" "76194146" "76194146" "subst" "" "00006" "ACADM_000002" "g.76194146C>T" "2/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016223" "0" "55" "1" "76194176" "76194176" "subst" "" "00006" "ACADM_000003" "g.76194176A>G" "1/130" "{PMID:Tong F et al. (2019):30675864}" "Substitution" "" "" "0000016224" "0" "55" "1" "76198367" "76198367" "subst" "" "00006" "ACADM_000004" "g.76198367C>T" "3/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016225" "0" "55" "1" "76198368" "76198368" "subst" "" "00006" "ACADM_000005" "g.76198368G>A" "1/130" "" "Substitution" "" "" "0000016226" "0" "55" "1" "76199227" "76199227" "subst" "" "00006" "ACADM_000006" "g.76199227G>A" "1/130" "" "Substitution" "" "" "0000016227" "0" "55" "1" "76198368" "76198368" "subst" "" "00006" "ACADM_000007" "g.76198368T>A" "2/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016228" "0" "77" "1" "76199264" "76199267" "del" "" "00006" "ACADM_000008" "g.76199264_76199267del" "1/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Deletion" "" "" "0000016229" "0" "55" "1" "76199288" "76199288" "subst" "" "00006" "ACADM_000010" "g.76199288C>T" "1/130" "" "Substitution" "" "" "0000016230" "0" "55" "1" "76199311" "76199311" "subst" "" "00006" "ACADM_000011" "g.76199311G>A" "1/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016231" "0" "99" "1" "76199314" "76199314" "del" "" "00006" "ACADM_000012" "g.76199314delG" "5/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Deletion" "" "" "0000016232" "0" "77" "1" "76200518" "76200518" "subst" "" "00006" "ACADM_000013" "g.76200518A>T" "1/130" "" "Substitution" "" "" "0000016233" "0" "77" "1" "76200536" "76200541" "del" "" "00006" "ACADM_000014" "g.76200536_76200541del" "1/130" "" "Deletion" "" "" "0000016234" "0" "99" "1" "76200537" "76200540" "del" "" "00006" "ACADM_000015" "g.76200537_76200540del" "32/130" "{PMID:Benjing Wang et al. (2019):31620161}" "Deletion" "" "" "0000016235" "0" "55" "1" "76200549" "76200549" "subst" "" "00006" "ACADM_000016" "g.76200549T>G" "2/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016236" "0" "77" "1" "76205750" "76205782" "del" "" "00006" "ACADM_000019" "g.76205750_76205782del" "1/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Deletion" "" "" "0000016237" "0" "77" "1" "76205776" "76205776" "subst" "" "00006" "ACADM_000021" "g.76205776A>G" "8/130" "{PMID:Tong F et al. (2019):30675864}" "Substitution" "" "" "0000016238" "0" "55" "1" "76205783" "76205783" "subst" "" "00006" "ACADM_000022" "g.76205783G>A" "3/130" "" "Substitution" "" "" "0000016239" "0" "55" "1" "76205785" "76205785" "subst" "" "00006" "ACADM_000023" "g.76205785A>G" "2/130" "{PMID:Benjing Wang et al. (2019):31620161}" "Substitution" "" "" "0000016240" "0" "55" "1" "76211507" "76211507" "subst" "" "00006" "ACADM_000024" "g.76211507C>T" "1/130" "" "Substitution" "" "" "0000016241" "0" "77" "1" "76211515" "76211515" "del" "" "00006" "ACADM_000025" "g.76211515del" "1/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Deletion" "" "" "0000016242" "0" "55" "1" "76211559" "76211559" "subst" "" "00006" "ACADM_000026" "g.76211559T>C" "2/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016244" "0" "77" "1" "76215103" "76215103" "subst" "" "00006" "ACADM_000028" "g.76215103G>A" "2/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016245" "0" "55" "1" "76215104" "76215104" "subst" "" "00006" "ACADM_000029" "g.76215104G>C" "1/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016246" "0" "77" "1" "76215122" "76215122" "subst" "" "00006" "ACADM_000032" "g.76215122G>C" "2/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016247" "0" "55" "1" "76215164" "76215164" "subst" "" "00006" "ACADM_000033" "g.76215164G>A" "1/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016249" "0" "55" "1" "76216167" "76216167" "subst" "" "00006" "ACADM_000036" "g.76216167G>C" "1/130" "{PMID:Tong F et al. (2019):30675864}" "Substitution" "" "" "0000016250" "0" "55" "1" "76216191" "76216191" "subst" "" "00006" "ACADM_000037" "g.76216191A>G" "1/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016251" "0" "55" "1" "76216214" "76216214" "subst" "" "00006" "ACADM_000038" "g.76216214G>A" "2/130" "{PMID:Tong F et al. (2019):30675864}" "Substitution" "" "" "0000016252" "0" "77" "1" "76216233" "76216233" "subst" "" "00006" "ACADM_000039" "g.76216233T>G" "1/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016253" "0" "90" "1" "76226831" "76226832" "del" "" "00006" "ACADM_000040" "g.76226831_76226832delinsAT" "1/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Insertion/Deletion" "" "" "0000016254" "0" "55" "1" "76226831" "76226831" "subst" "" "00006" "ACADM_000041" "g.76226831G>A" "2/130" "{PMID:Benjing Wang et al. (2019):31620161}" "Substitution" "" "" "0000016255" "0" "55" "1" "76226831" "76226831" "subst" "" "00006" "ACADM_000042" "g.76226831G>C" "1/130" "" "Substitution" "" "" "0000016256" "0" "77" "1" "76226843" "76226843" "subst" "" "00006" "ACADM_000043" "g.76226843A>G" "2/130" "{PMID:Tong F et al. (2019):30675864}" "Substitution" "" "" "0000016257" "0" "77" "1" "76226878" "76226879" "del" "" "00006" "ACADM_000045" "g.76226878_76226879del" "1/130" "" "Deletion" "" "" "0000016258" "0" "77" "1" "76226901" "76226901" "subst" "" "00006" "ACADM_000046" "g.76226901G>T" "5/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016259" "0" "55" "1" "76226906" "76226906" "subst" "" "00006" "ACADM_000047" "g.76226906C>T" "2/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016260" "0" "99" "1" "76226946" "76226946" "subst" "" "00006" "ACADM_000048" "g.76226946G>A" "9/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016261" "0" "55" "1" "76226949" "76226949" "subst" "" "00006" "ACADM_000049" "g.76226949A>G" "1/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016262" "0" "77" "1" "76228411" "76228411" "subst" "" "00006" "ACADM_000053" "g.76228411T>C" "2/130" "{PMID:Zhuwen Gong et al. (2021):33841490}" "Substitution" "" "" "0000016263" "0" "55" "1" "76228420" "76228420" "subst" "" "00006" "ACADM_000054" "g.76228420G>A" "2/130" "{PMID:Benjing Wang et al. (2019):31620161}" "Substitution" "" "" "0000016264" "0" "55" "1" "76228430" "76228430" "subst" "" "00006" "ACADM_000056" "g.76228430T>G" "2/130" "{PMID:Ting Wang et al. (2019):31737040}" "Substitution" "" "" "0000016529" "0" "55" "1" "76228429" "76228429" "subst" "" "00006" "ACADM_000055" "g.76228429T>C" "1/130" "{PMID:Ting Wang et al. (2019):31737040}" "Substitution" "" "" "0000016530" "0" "77" "1" "76226807" "76227055" "del" "" "00006" "ACADM_000052" "g.76226807_76227055del" "1/130" "{PMID:Tong F et al. (2019):30675864}" "Deletion" "" "" "0000016531" "0" "55" "1" "76227044" "76227046" "del" "" "00006" "ACADM_000051" "g.76227044_76227046delinsTAT" "1/130" "{PMID:Shuting Wang et al. (2020):32447334}" "Insertion/Deletion" "" "" "0000016532" "0" "55" "1" "76227032" "76227032" "subst" "" "00006" "ACADM_000050" "g.76227032A>G" "1/130" "{PMID:Ting Wang et al. (2019):31737040}" "Substitution" "" "" "0000016533" "0" "55" "1" "76226846" "76226846" "subst" "" "00006" "ACADM_000044" "g.76226846A>G" "1/130" "{PMID:Shuting Wang et al. (2020):32447334}" "Substitution" "" "" "0000016534" "0" "55" "1" "76215194" "76215194" "subst" "" "00006" "ACADM_000035" "g.76215194G>A" "1/130" "" "Substitution" "" "" "0000016535" "0" "55" "1" "76215185" "76215185" "subst" "" "00006" "ACADM_000034" "g.76215185A>T" "1/130" "" "Substitution" "" "" "0000016536" "0" "55" "1" "76215113" "76215113" "subst" "" "00006" "ACADM_000031" "g.76215113A>G" "1/130" "" "Substitution" "" "" "0000016537" "0" "55" "1" "76215111" "76215111" "subst" "" "00006" "ACADM_000030" "g.76215111A>G" "1/130" "" "Substitution" "" "" "0000016538" "0" "55" "1" "76211589" "76211589" "subst" "" "00006" "ACADM_000027" "g.76211589T>C" "1/130" "" "Substitution" "" "" "0000016539" "0" "77" "1" "76205768" "76205768" "subst" "" "00006" "ACADM_000020" "g.76205768G>A" "2/130" "" "Substitution" "" "" "0000016540" "0" "77" "1" "76205741" "76205744" "del" "" "00006" "ACADM_000018" "g.76205741_76205744del" "1/130" "" "Deletion" "" "" "0000016541" "0" "77" "1" "76205679" "76205679" "del" "" "00006" "ACADM_000017" "g.76205679del" "2/130" "" "Deletion" "" "" "0000016542" "0" "77" "1" "76199281" "76199281" "del" "" "00006" "ACADM_000009" "g.76199281delG" "1/130" "{PMID:Shuting Wang et al. (2020):32447334}" "Deletion" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ACADM ## Count = 56 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "0000016221" "00000135" "99" "1" "0" "1" "0" "c.1A>G" "1" "Met1Val" "r.0?" "0000016222" "00000135" "55" "91" "0" "91" "0" "c.91C>T" "2" "Arg31Cys" "r.0?" "0000016223" "00000135" "55" "118" "3" "118" "3" "c.118+3A>G" "2i" "-" "r.0?" "0000016224" "00000135" "55" "157" "0" "157" "0" "c.157C>T" "3" "Arg53Cys" "r.0?" "0000016225" "00000135" "55" "158" "0" "158" "0" "c.158G>A" "3" "Arg53His" "r.0?" "0000016226" "00000135" "55" "301" "0" "301" "0" "c.301G>A" "5" "Gly101Arg" "r.0?" "0000016227" "00000135" "55" "308" "0" "308" "0" "c.308T>A" "5" "Phe103Tyr" "r.0?" "0000016228" "00000135" "77" "338" "0" "341" "0" "c.338_341delCTTA" "5" "Ala113Valfs*36" "r.0?" "0000016229" "00000135" "55" "362" "0" "362" "0" "c.362C>T" "5" "Thr121Ile" "r.0?" "0000016230" "00000135" "55" "385" "0" "385" "0" "c.385G>A" "5" "Gly129Arg" "r.0?" "0000016231" "00000135" "99" "387" "1" "387" "1" "c.387+1delG" "5i" "-" "r.0?" "0000016232" "00000135" "77" "430" "0" "430" "0" "c.430A>T" "8" "Lys144*" "r.0?" "0000016233" "00000135" "77" "448" "0" "453" "0" "c.448_453del" "6" "Thr150_Glu151del" "r.0?" "0000016234" "00000135" "99" "449" "0" "452" "0" "c.449_452del" "6" "Thr150Argfs*4" "r.0?" "0000016235" "00000135" "55" "461" "0" "461" "0" "c.461T>G" "6" "Leu154Trp" "r.0?" "0000016236" "00000135" "77" "554" "0" "586" "0" "c.554_586del" "7" "Ile185_Gly196delinsArg" "r.0?" "0000016237" "00000135" "77" "580" "0" "580" "0" "c.580A>G" "7" "Asn194Asp" "r.0?" "0000016238" "00000135" "55" "587" "0" "587" "0" "c.587G>A" "7" "Gly196Glu" "r.0?" "0000016239" "00000135" "55" "589" "0" "589" "0" "c.589A>G" "7" "Lys197Glu" "r.0?" "0000016240" "00000135" "55" "616" "0" "616" "0" "c.616C>T" "8" "Arg206Cys" "r.0?" "0000016241" "00000135" "77" "624" "0" "624" "0" "c.624del" "8" "Pro209Glnfs*30" "r.0?" "0000016242" "00000135" "55" "668" "0" "668" "0" "c.668T>C" "8" "Ile223Thr" "r.0?" "0000016244" "00000135" "77" "709" "-1" "709" "-1" "c.709-1G>A" "8i" "-" "r.0?" "0000016245" "00000135" "55" "709" "0" "709" "0" "c.709G>C" "9" "Glu237Gln" "r.0?" "0000016246" "00000135" "77" "727" "0" "727" "0" "c.727C>T" "9" "Arg243*" "r.0?" "0000016247" "00000135" "55" "769" "0" "769" "0" "c.769G>A" "9" "Val257Met" "r.0?" "0000016249" "00000135" "55" "881" "0" "881" "0" "c.881G>C" "9" "Arg294Thr" "r.0?" "0000016250" "00000135" "55" "905" "0" "905" "0" "c.905A>G" "10" "Tyr302Cys" "r.0?" "0000016251" "00000135" "55" "928" "0" "928" "0" "c.928G>A" "10" "Gly310Arg" "r.0?" "0000016252" "00000135" "77" "945" "2" "945" "2" "c.945+2T>G" "10i" "-" "r.0?" "0000016253" "00000135" "90" "970" "0" "971" "0" "c.970_971delinsAT" "11" "Ala324Ile" "r.0?" "0000016254" "00000135" "55" "970" "0" "970" "0" "c.970G>A" "11" "Ala324Thr" "r.0?" "0000016255" "00000135" "55" "970" "0" "970" "0" "c.970G>C" "11" "Ala324Pro" "r.0?" "0000016256" "00000135" "77" "982" "0" "982" "0" "c.982A>G" "11" "Met328Val" "r.0?" "0000016257" "00000135" "77" "1017" "0" "1018" "0" "c.1017_1018del" "11" "Arg339Serfs*6" "r.0?" "0000016258" "00000135" "77" "1040" "0" "1040" "0" "c.1040G>T" "11" "Gly347Val" "r.0?" "0000016259" "00000135" "55" "1045" "0" "1045" "0" "c.1045C>T" "11" "Arg349*" "r.0?" "0000016260" "00000135" "99" "1085" "0" "1085" "0" "c.1085G>A" "11" "Gly362Glu" "r.0?" "0000016261" "00000135" "55" "1088" "0" "1088" "0" "c.1088A>G" "11" "Asp363Gly" "r.0?" "0000016262" "00000135" "77" "1229" "0" "1229" "0" "c.1229T>C" "12" "Ile410Thr" "r.0?" "0000016263" "00000135" "55" "1238" "0" "1238" "0" "c.1238G>A" "12" "Arg413His" "r.0?" "0000016264" "00000135" "55" "1248" "0" "1248" "0" "c.1248T>G" "12" "Ile416Met" "r.0?" "0000016529" "00000135" "55" "1247" "0" "1247" "0" "c.1247T>C" "12" "Ile416Thr" "r.0?" "0000016530" "00000135" "77" "946" "0" "1194" "0" "c.946_1194del" "11" "His316_Gln398del" "r.0？" "0000016531" "00000135" "55" "1183" "0" "1185" "0" "c.1183_1185delinsTAT" "11" "p.(Lys395Tyr)" "r.(?)" "0000016532" "00000135" "55" "1171" "0" "1171" "0" "c.1171A>G" "11" "p.(Met391Val)" "r.(?)" "0000016533" "00000135" "55" "985" "0" "985" "0" "c.985A>G" "11" "p.(Lys329Glu)" "r.(?)" "0000016534" "00000135" "55" "799" "0" "799" "0" "c.799G>A" "9" "p.(Gly267Arg)" "r.0?" "0000016535" "00000135" "55" "790" "0" "790" "0" "c.790A>T" "9" "Ile264Phe" "r.0?" "0000016536" "00000135" "55" "718" "0" "718" "0" "c.718A>G" "9" "p.(Met240Val)" "r.(?)" "0000016537" "00000135" "55" "716" "0" "716" "0" "c.716A>G" "9" "Asn239Ser" "r.0?" "0000016538" "00000135" "55" "698" "0" "698" "0" "c.698T>C" "8" "p.(Ile233Thr)" "r.(?)" "0000016539" "00000135" "77" "572" "0" "572" "0" "c.572G>A" "7" "p.(Trp191*)" "r.(?)" "0000016540" "00000135" "77" "545" "0" "548" "0" "c.545_548del" "7" "p.(Glu182Valfs*10)" "r.(?)" "0000016541" "00000135" "77" "483" "0" "483" "0" "c.483del" "7" "p.(Glu162Asnfs*8)" "r.(?)" "0000016542" "00000135" "77" "355" "0" "355" "0" "c.355delG" "5" "p.(Val119Phefs*31)" "r.(?)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0