Variant #0000000054 (NC_000011.9:g.5291830A>G, HBE1(NM_005330.3):c.-710T>C)

Individual ID	00000004, 00000005, 00000006, 00000011, 00000016, 00000018, 00000020, 00000023, 00000027, 00000032, 00000033, 00000035, 00000036, 00000042, 00000044, 00000045, 00000050, 00000054, 00000056, 00000063, 00000064, 00000066, 00000069, 00000072, 00000073, 00000074, 00000079, 00000080, 00000082, 00000088, 00000095, 00000099, 00000100, 00000109, 00000111, 00000112, 00000114, 00000115, 00000120, 00000122, 00000123, 00000125, 00000130, 00000136, 00000137, 00000139, 00000142, 00000146, 00000147, 00000162, 00000163, 00000164, 00000170, 00000181, 00000184, 00000186, 00000201, 00000204, 00000210, 00000212, 00000213, 00000214, 00000217, 00000221, 00000222, 00000231, 00000237, 00000238, 00000246, 00000247, 00000248, 00000249, 00000253, 00000255, 00000256, 00000260, 00000266, 00000272, 00000282, 00000293, 00000302, 00000316, 00000317, 00000320, 00000321
Chromosome	11
Allele	Parent #1
Affects function (as reported)	Effect unknown
Affects function (by curator)	Not classified
Type	Substitution
DNA change (genomic) (Relative to hg19 / GRCh37)	g.5291830A>G
Reference	GenBank;dbSNP
DB-ID	HBE1_000006 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
HBE1	NM_005330.3	./.	-	c.-710T>C	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
0000000003	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000004	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
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
0000000015	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	59	Qi Ming
0000000017	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	69	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
0000000031	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000032	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	64	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
0000000041	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	51	Qi Ming
0000000043	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	63	Qi Ming
0000000044	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	68	Qi Ming
0000000049	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	55	Qi Ming
0000000053	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000055	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	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
0000000065	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000068	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000071	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000072	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	65	Qi Ming
0000000073	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000078	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	66	Qi Ming
0000000079	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	71	Qi Ming
0000000081	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000087	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000094	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	51	Qi Ming
0000000098	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000099	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	69	Qi Ming
0000000108	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	70	Qi Ming
0000000110	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000111	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000113	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000114	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	57	Qi Ming
0000000119	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, KLF1	50	Qi Ming
0000000121	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000122	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	51	Qi Ming
0000000124	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000129	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000135	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000136	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	60	Qi Ming
0000000138	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000141	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000145	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000146	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000161	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	69	Qi Ming
0000000162	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	68	Qi Ming
0000000163	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	61	Qi Ming
0000000169	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	61	Qi Ming
0000000180	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	55	Qi Ming
0000000183	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	43	Qi Ming
0000000185	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	55	Qi Ming
0000000200	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	70	Qi Ming
0000000203	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	60	Qi Ming
0000000209	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000211	DNA	SEQ-NG-I	BCL11A, HBA2, HBE1, HBG1, HBG2	27	Qi Ming
0000000212	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000213	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	69	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
0000000221	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	69	Qi Ming
0000000230	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	61	Qi Ming
0000000236	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	63	Qi Ming
0000000237	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000245	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000246	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	61	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
0000000252	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	60	Qi Ming
0000000254	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000255	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	60	Qi Ming
0000000259	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000265	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	44	Qi Ming
0000000271	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	47	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
0000000301	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000315	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000316	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	56	Qi Ming
0000000319	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	69	Qi Ming
0000000320	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000326	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	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
0000000332	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	70	Qi Ming
0000000334	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	71	Qi Ming
0000000341	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000350	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	55	Qi Ming
0000000372	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming