Variant #0000000114 (NC_000011.9:g.5275240G>A, HBG2(NM_000184.2):c.315+282C>T)

Individual ID	00000001, 00000003, 00000007, 00000008, 00000009, 00000010, 00000012, 00000013, 00000014, 00000015, 00000021, 00000022, 00000024, 00000025, 00000026, 00000028, 00000029, 00000030, 00000031, 00000034, 00000037, 00000038, 00000039, 00000040, 00000041, 00000043, 00000046, 00000047, 00000048, 00000051, 00000052, 00000053, 00000055, 00000057, 00000058, 00000059, 00000060, 00000061, 00000062, 00000065, 00000067, 00000068, 00000070, 00000071, 00000075, 00000076, 00000077, 00000078, 00000081, 00000082, 00000083, 00000084, 00000085, 00000086, 00000087, 00000089, 00000091, 00000092, 00000093, 00000094, 00000096, 00000097, 00000102, 00000103, 00000105, 00000106, 00000107, 00000108, 00000110, 00000116, 00000117, 00000118, 00000119, 00000121, 00000124, 00000126, 00000127, 00000128, 00000129, 00000131, 00000132, 00000133, 00000134, 00000135, 00000138
Chromosome	11
Allele	Both (homozygous)
Affects function (as reported)	Effect unknown
Affects function (by curator)	Not classified
Type	Substitution
DNA change (genomic) (Relative to hg19 / GRCh37)	g.5275240G>A
Reference	GenBank;dbSNP
DB-ID	HBG2_000005 See all 2 reported entries
Frequency	-
Variant remarks	-
ClassClinical	uncertain significance
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

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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
HBG2	NM_000184.2	./.	-	c.315+282C>T	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
0000000001	DNA	SEQ-NG-I	BCL11A, BRCA1, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	59	Qi Ming
0000000002	DNA	arraySNP	BCL11A, BRCA1, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000006	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	56	Qi Ming
0000000007	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000008	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000009	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000011	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000012	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000013	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000014	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000020	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000021	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000023	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	48	Qi Ming
0000000024	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000025	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	52	Qi Ming
0000000027	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000028	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000029	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000030	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000033	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	51	Qi Ming
0000000036	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000037	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000038	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000039	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000040	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	56	Qi Ming
0000000042	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000045	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000046	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000047	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000050	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000051	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000052	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	54	Qi Ming
0000000054	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000056	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000057	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000058	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000059	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000060	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	44	Qi Ming
0000000061	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000064	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	57	Qi Ming
0000000066	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000067	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000069	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000070	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000074	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000075	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000076	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000077	DNA	SEQ-NG-I	HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	44	Qi Ming
0000000080	DNA	SEQ-NG-I	HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	52	Qi Ming
0000000081	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000082	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000083	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	56	Qi Ming
0000000084	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000085	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000086	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000088	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	55	Qi Ming
0000000090	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	51	Qi Ming
0000000091	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000092	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000093	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000095	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000096	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000101	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000102	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000104	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	55	Qi Ming
0000000105	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000106	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000107	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000109	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000115	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	50	Qi Ming
0000000116	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000117	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	51	Qi Ming
0000000118	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000120	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	50	Qi Ming
0000000123	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000125	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000126	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000127	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	50	Qi Ming
0000000128	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000130	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000131	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	50	Qi Ming
0000000132	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	56	Qi Ming
0000000133	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000134	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000137	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000139	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000140	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000142	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000143	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000144	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000147	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	43	Qi Ming
0000000148	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000149	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming

Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)

EPCAM (epithelial cell adhesion molecule)