Variant #0000000005 (NC_000011.9:g.5255989T>C, HBD(NM_000519.3):c.-326A>G)

Individual ID	00000005, 00000019, 00000020, 00000023, 00000027, 00000033, 00000049, 00000054, 00000063, 00000064, 00000069, 00000073, 00000080, 00000090, 00000113, 00000114, 00000164, 00000200, 00000204, 00000222, 00000236, 00000260, 00000264, 00000282, 00000293, 00000315, 00000320, 00000328, 00000330, 00000335, 00000341, 00000373, 00000378, 00000398, 00000400, 00000402, 00000418, 00000454, 00000461, 00000510, 00000512, 00000553, 00000568, 00000572, 00000589, 00000590, 00000615, 00000621, 00000622, 00000628, 00000634, 00000636, 00000637, 00000638, 00000671, 00000691, 00000697, 00000701, 00000703, 00000704, 00000724, 00000744, 00000752, 00000774, 00000782, 00000791, 00000839, 00000857, 00000859, 00000883, 00000931, 00000937, 00000949, 00000957, 00000968, 00000993, 00001026, 00001039, 00001061, 00001065, 00001094, 00001114, 00001124, 00001134, 00001138
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.5255989T>C
Reference	GenBank;dbSNP
DB-ID	HBD_000002 See all 2 reported entries
Frequency	-
Variant remarks	-
ClassClinical	Likely benign
Average frequency (gnomAD v.2.1.1)	Retrieve
Owner	Qi Ming
Database submission license	No license selected
Created by	Qi Ming

View location in UCSC genome browser
View location in Ensembl genome browser
View variant in MobiDetails

Variant on transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Affects function: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

RNA change: Description of variant at RNA level (following HGVS recommendations).

r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription

Protein: Description of variant at protein level (following HGVS recommendations).

p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

Gene	Transcript	Affects function	Exon	DNA change (cDNA)	RNA change	Protein
HBD	NM_000519.3	./.	-	c.-326A>G	r.(=)	p.(=)

Screenings

Legend

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

Screening ID	Template	Technique	Genes screened	Variants found	Owner
0000000004	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000018	DNA	SEQ-NG-I	BCL11A, HBA2, HBD, HBE1, HBG1, HBG2	24	Qi Ming
0000000019	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	71	Qi Ming
0000000022	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	65	Qi Ming
0000000026	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	66	Qi Ming
0000000032	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	64	Qi Ming
0000000048	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2	23	Qi Ming
0000000053	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000062	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	65	Qi Ming
0000000063	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000000068	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000072	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	65	Qi Ming
0000000079	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	71	Qi Ming
0000000089	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	59	Qi Ming
0000000112	DNA	SEQ-NG-I	HBB, HBD, HBE1, HBG1, HBG2	53	Qi Ming
0000000113	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000163	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	61	Qi Ming
0000000199	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	32	Qi Ming
0000000203	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	60	Qi Ming
0000000221	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	69	Qi Ming
0000000235	DNA	SEQ-NG-I	BCL11A, HBA2, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	35	Qi Ming
0000000259	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000263	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	52	Qi Ming
0000000281	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	70	Qi Ming
0000000292	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	69	Qi Ming
0000000314	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	68	Qi Ming
0000000319	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	69	Qi Ming
0000000327	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	72	Qi Ming
0000000329	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000334	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	71	Qi Ming
0000000340	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	61	Qi Ming
0000000372	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000000377	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2	23	Qi Ming
0000000397	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	67	Qi Ming
0000000399	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	69	Qi Ming
0000000401	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	65	Qi Ming
0000000417	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	65	Qi Ming
0000000453	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000460	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, KLF1, MYB	70	Qi Ming
0000000509	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000511	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	71	Qi Ming
0000000552	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	64	Qi Ming
0000000567	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2, HBS1L	34	Qi Ming
0000000571	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000588	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000000589	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000000614	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000620	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	59	Qi Ming
0000000621	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	64	Qi Ming
0000000627	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	67	Qi Ming
0000000633	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	61	Qi Ming
0000000635	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2, MYB	29	Qi Ming
0000000636	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	60	Qi Ming
0000000637	DNA	SEQ-NG-I	BCL11A, HBA2, HBD, HBE1, HBG1, HBG2	24	Qi Ming
0000000670	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	70	Qi Ming
0000000690	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	71	Qi Ming
0000000696	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000700	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000702	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	70	Qi Ming
0000000703	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2	26	Qi Ming
0000000723	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000000743	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000000751	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	71	Qi Ming
0000000773	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	68	Qi Ming
0000000781	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	66	Qi Ming
0000000790	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	65	Qi Ming
0000000838	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000000856	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	71	Qi Ming
0000000858	DNA	SEQ-NG-I	BCL11A, HBA2, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	29	Qi Ming
0000000882	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000000930	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	71	Qi Ming
0000000936	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	64	Qi Ming
0000000948	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000956	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000000967	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	60	Qi Ming
0000000992	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	70	Qi Ming
0000001025	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	65	Qi Ming
0000001038	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	72	Qi Ming
0000001060	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	72	Qi Ming
0000001064	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000001093	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000001113	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	65	Qi Ming
0000001123	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	70	Qi Ming
0000001133	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000001137	DNA	SEQ-NG-I	BCL11A, HBA2, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	32	Qi Ming
0000001139	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000001144	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	69	Qi Ming
0000001145	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	64	Qi Ming
0000001163	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	71	Qi Ming
0000001169	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	61	Qi Ming
0000001170	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000001199	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	57	Qi Ming
0000001237	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	73	Qi Ming