Variant #0000001107 (NC_000011.9:g.5248329A>C)

Individual ID	00000006, 00000011, 00000019, 00000032, 00000035, 00000036, 00000066, 00000072, 00000082, 00000112, 00000136, 00000200, 00000212, 00000217, 00000221, 00000236, 00000246, 00000248, 00000249, 00000264, 00000302, 00000308, 00000421, 00000422, 00000432, 00000457, 00000471, 00000479, 00000485, 00000490, 00000491, 00000499, 00000502, 00000508, 00000542, 00000660, 00000664, 00000666, 00000669, 00000680, 00000683, 00000685, 00000704, 00000706, 00000707, 00000709, 00000725, 00000732, 00000739, 00000779, 00000785, 00000808, 00000809, 00000824, 00000826, 00000827, 00000831, 00000833, 00000835, 00000836, 00000843, 00000845, 00000849, 00000851, 00000859, 00000860, 00000861, 00000864, 00000865, 00000867, 00000868, 00000871, 00000891, 00000899, 00000900, 00000905, 00000907, 00000909, 00000911, 00000912, 00000918, 00000937, 00000938, 00000939, 00000941
Chromosome	11
Allele	Parent #1
Affects function (as reported)	Affects function
Affects function (by curator)	Not classified
Type	Substitution
DNA change (genomic) (Relative to hg19 / GRCh37)	g.5248329A>C
Reference	(OMIM 0380);dbSNP;Poncz M et al.;
DB-ID	chr11_000060
Frequency	-
Variant remarks	-28 (A->C) beta+
ClassClinical	Pathogenic
Average frequency (gnomAD v.2.1.1)	Genomic location of variant could not be determined
Owner	Qi Ming
Database submission license	No license selected
Created by	Qi Ming

Variant on transcripts

Screenings

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Template: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:

DNA
RNA = RNA (cDNA)
Protein
? = unknown

Technique: Technique(s) used to identify the sequence variant.
All options:

? = Unknown
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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Screening ID	Template	Technique	Genes screened	Variants found	Owner
0000000005	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000010	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000018	DNA	SEQ-NG-I	BCL11A, HBA2, HBD, HBE1, HBG1, HBG2	24	Qi Ming
0000000031	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000034	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000035	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000065	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000071	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000081	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000111	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000135	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000199	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	32	Qi Ming
0000000211	DNA	SEQ-NG-I	BCL11A, HBA2, HBE1, HBG1, HBG2	27	Qi Ming
0000000216	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000220	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000235	DNA	SEQ-NG-I	BCL11A, HBA2, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	35	Qi Ming
0000000245	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000247	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000248	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000263	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	52	Qi Ming
0000000301	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000307	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000420	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	59	Qi Ming
0000000421	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	52	Qi Ming
0000000431	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	56	Qi Ming
0000000456	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	46	Qi Ming
0000000470	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000478	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000484	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000489	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	52	Qi Ming
0000000490	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000498	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000501	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000507	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000541	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	45	Qi Ming
0000000659	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000663	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	51	Qi Ming
0000000665	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	51	Qi Ming
0000000668	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	56	Qi Ming
0000000679	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000682	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000684	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000703	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2	26	Qi Ming
0000000705	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, KLF1	50	Qi Ming
0000000706	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, KLF1	50	Qi Ming
0000000708	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000724	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000731	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000738	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000778	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000784	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000807	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000808	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000823	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000825	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000826	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	56	Qi Ming
0000000830	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000832	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000834	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	51	Qi Ming
0000000835	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000842	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000844	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	59	Qi Ming
0000000848	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000850	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000858	DNA	SEQ-NG-I	BCL11A, HBA2, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	29	Qi Ming
0000000859	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000860	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000863	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000864	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000866	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000867	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	58	Qi Ming
0000000870	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000890	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	52	Qi Ming
0000000898	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000899	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000904	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000906	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	57	Qi Ming
0000000908	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000910	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000911	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000917	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000936	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	64	Qi Ming
0000000937	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000938	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	59	Qi Ming
0000000940	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	58	Qi Ming
0000000941	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000986	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	51	Qi Ming
0000000991	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000001000	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	57	Qi Ming
0000001007	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	55	Qi Ming
0000001009	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	47	Qi Ming
0000001011	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000001020	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming