Variant #0000001115 (NC_000011.9:g.5247153C>T)

Individual ID	00000005, 00000023, 00000036, 00000037, 00000038, 00000060, 00000064, 00000065, 00000066, 00000068, 00000071, 00000075, 00000083, 00000092, 00000094, 00000095, 00000097, 00000103, 00000112, 00000116, 00000117, 00000135, 00000145, 00000171, 00000174, 00000215, 00000216, 00000219, 00000220, 00000221, 00000239, 00000240, 00000244, 00000245, 00000249, 00000251, 00000253, 00000259, 00000262, 00000264, 00000265, 00000277, 00000278, 00000282, 00000283, 00000284, 00000285, 00000286, 00000287, 00000292, 00000293, 00000297, 00000298, 00000300, 00000301, 00000303, 00000304, 00000305, 00000307, 00000309, 00000411, 00000413, 00000414, 00000416, 00000420, 00000423, 00000427, 00000430, 00000432, 00000448, 00000454, 00000460, 00000464, 00000466, 00000490, 00000494, 00000521, 00000558, 00000577, 00000584, 00000667, 00000669, 00000672, 00000673, 00000674
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.5247153C>T
Reference	(OMIM 0368);dbSNP;Chen et al.
DB-ID	chr11_000473
Frequency	-
Variant remarks	IVS-II-654 (C->T)
ClassClinical	Pathogenic
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

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'

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.

Screening ID	Template	Technique	Genes screened	Variants found	Owner
0000000004	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000022	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	65	Qi Ming
0000000035	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	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
0000000059	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000063	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000000064	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	57	Qi Ming
0000000065	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000067	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	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
0000000082	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000091	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000093	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000094	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	51	Qi Ming
0000000096	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000102	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
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
0000000134	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000144	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000170	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000173	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000214	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000215	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000218	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	59	Qi Ming
0000000219	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
0000000238	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000239	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	58	Qi Ming
0000000243	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000244	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000248	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000250	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000252	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	60	Qi Ming
0000000258	DNA	SEQ-NG-I	HBB, HBD, HBE1, HBG1, HBG2, HBS1L	44	Qi Ming
0000000261	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000263	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	52	Qi Ming
0000000264	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000276	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000277	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000281	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	70	Qi Ming
0000000282	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000283	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000284	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000285	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000286	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000291	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000292	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	69	Qi Ming
0000000296	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000297	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000299	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000300	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000302	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000303	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000304	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000306	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000308	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	55	Qi Ming
0000000410	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	55	Qi Ming
0000000412	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000413	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	59	Qi Ming
0000000415	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000419	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000422	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000426	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	59	Qi Ming
0000000429	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	49	Qi Ming
0000000431	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	56	Qi Ming
0000000447	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000453	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000459	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000463	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000465	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000489	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	52	Qi Ming
0000000493	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000520	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000557	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000000576	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	70	Qi Ming
0000000583	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000666	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000668	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	56	Qi Ming
0000000671	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000672	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000673	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000676	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000679	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000680	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
0000000700	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000718	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000781	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, MYB	66	Qi Ming
0000000793	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	51	Qi Ming