Variant #0000001109 (NC_000016.9:g.219817_(223755_224074)del)

Individual ID	00000003, 00000043, 00000044, 00000045, 00000050, 00000061, 00000091, 00000122, 00000160, 00000162, 00000163, 00000170, 00000207, 00000228, 00000233, 00000305, 00000331, 00000338, 00000342, 00000349, 00000352, 00000353, 00000366, 00000378, 00000403, 00000407, 00000473, 00000481, 00000511, 00000524, 00000530, 00000533, 00000540, 00000545, 00000553, 00000555, 00000557, 00000561, 00000563, 00000566, 00000571, 00000582, 00000583, 00000586, 00000587, 00000589, 00000591, 00000599, 00000609, 00000615, 00000616, 00000617, 00000620, 00000622, 00000633, 00000636, 00000641, 00000655, 00000700, 00000754, 00000761, 00000764, 00000773, 00000790, 00000792, 00000872, 00001026, 00001096, 00001165, 00001167, 00001256, 00001327, 00001335, 00001346, 00001358, 00001466, 00001546, 00001610, 00001660, 00001682, 00001690, 00001716, 00001726, 00001729, 00001732
Chromosome	16
Allele	Parent #1
Affects function (as reported)	Affects function
Affects function (by curator)	Not classified
Type	Deletion
DNA change (genomic) (Relative to hg19 / GRCh37)	g.219817_(223755_224074)del
Reference	Xu et al
DB-ID	HBA2_000005
Frequency	-
Variant remarks	-a4.2
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
0000000002	DNA	arraySNP	BCL11A, BRCA1, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000042	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	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
0000000060	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	44	Qi Ming
0000000090	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	51	Qi Ming
0000000121	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000159	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	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
0000000169	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	61	Qi Ming
0000000206	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000227	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	44	Qi Ming
0000000232	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000304	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000330	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	56	Qi Ming
0000000337	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	44	Qi Ming
0000000341	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000000348	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000351	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000352	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000365	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000377	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2	23	Qi Ming
0000000402	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000406	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000472	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000480	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000510	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	52	Qi Ming
0000000523	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000529	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000000532	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000539	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	56	Qi Ming
0000000544	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000552	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	64	Qi Ming
0000000554	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000556	DNA	SEQ-NG-I	HBB, HBD, HBE1, HBG1, HBG2	42	Qi Ming
0000000560	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	50	Qi Ming
0000000562	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	61	Qi Ming
0000000565	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	55	Qi Ming
0000000570	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000581	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	61	Qi Ming
0000000582	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000585	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	51	Qi Ming
0000000586	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000588	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	64	Qi Ming
0000000590	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000000598	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000608	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	57	Qi Ming
0000000614	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	63	Qi Ming
0000000615	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000616	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000619	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000621	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, MYB	64	Qi Ming
0000000632	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000635	DNA	SEQ-NG-I	BCL11A, HBD, HBE1, HBG1, HBG2, MYB	29	Qi Ming
0000000640	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	52	Qi Ming
0000000654	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	51	Qi Ming
0000000699	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000753	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000760	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000763	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000000772	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000000789	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000791	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000000871	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000001025	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	65	Qi Ming
0000001095	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000001164	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000001166	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	48	Qi Ming
0000001255	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000001326	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	50	Qi Ming
0000001334	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	60	Qi Ming
0000001345	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000001357	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	51	Qi Ming
0000001465	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	52	Qi Ming
0000001545	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000001609	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000001659	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	66	Qi Ming
0000001681	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	75	Qi Ming
0000001689	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000001715	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	58	Qi Ming
0000001725	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000001728	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	51	Qi Ming
0000001731	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming
0000001769	DNA	SEQ-NG-I	HBB, HBD, HBE1, HBG1, HBG2	43	Qi Ming
0000001776	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	58	Qi Ming
0000001842	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L	66	Qi Ming
0000001843	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	62	Qi Ming
0000001875	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000001877	DNA	SEQ-NG-I	BCL11A, HBA2, HBB, HBD, HBE1, HBG1, HBG2	60	Qi Ming
0000001901	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2	49	Qi Ming
0000001903	DNA	SEQ-NG-I	BCL11A, HBB, HBD, HBE1, HBG1, HBG2, HBS1L, MYB	57	Qi Ming