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Results for "ANKS1B"

Variant Events: 68

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
ANKS1B     2-1562-003chr12:
99666660-99666660
GTintronicDe novo--Yuen2017 G
ANKS1B     1-0345-003chr12:
99162688-99162688
AACTintronicDe novo--Yuen2017 G
ANKS1B     5-0103-003chr12:
100416788-100416788
GAintergenicDe novo--Yuen2017 G
ANKS1B     1-0652-003chr12:
99386219-99386219
CTintronicDe novo--Yuen2017 G
ANKS1B     2-1356-003chr12:
99580834-99580834
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ANKS1B     2-0242-003chr12:
99162688-99162688
AACTintronicDe novo--Yuen2017 G
ANKS1B     AU2140305chr12:
99516654-99516654
TTAintronicDe novo--Yuen2017 G
ANKS1B     3-0185-000chr12:
100075204-100075204
GAintronicDe novo--Yuen2017 G
ANKS1B     2-1239-003chr12:
99196700-99196700
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ANKS1B     7-0106-003chr12:
100076861-100076861
GAintronicDe novo--Yuen2017 G
ANKS1B     1-0224-004chr12:
99548329-99548329
CGUTR5De novo--Yuen2017 G
ANKS1B     AU1725306chr12:
100176109-100176109
GAintronicDe novo--Yuen2017 G
ANKS1B     1-0051-005chr12:
99566220-99566220
CAintronicDe novo--Yuen2017 G
ANKS1B     A2chr12:
100310056-100310056
TCintronicDe novo--Wu2018 G
ANKS1B     F5674-1chr12:
99837458-99837458
CTexonicDe novononsynonymous SNVNM_152788c.G1568Ap.R523Q31.0-Montenegro2019 E
ANKS1B     AU1795302chr12:
99390680-99390680
TCintronicDe novo--Yuen2017 G
ANKS1B     AU2792301chr12:
99798462-99798462
CTintronicDe novo--Yuen2017 G
ANKS1B     PN400171chr12:
99640092-99640092
ATexonicDe novononsynonymous SNVNM_152788c.T2307Ap.N769K12.38-Leblond2019 E
ANKS1B     1-0651-003chr12:
100064055-100064055
TCintronicDe novo--Yuen2017 G
ANKS1B     7-0249-004chr12:
99176976-99176976
CTintronicDe novo--Yuen2017 G
ANKS1B     AU3885304chr12:
100235916-100235916
TAintronicDe novo--Yuen2017 G
ANKS1B     2-0011-004chr12:
99692849-99692849
TTCintronicDe novo--Yuen2017 G
ANKS1B     2-1134-003chr12:
99228431-99228431
CTintronicDe novo--Yuen2017 G
ANKS1B     AU3634301chr12:
99446815-99446815
TCintronicDe novo--Yuen2017 G
ANKS1B     2-1507-003chr12:
99286323-99286323
GAintronicDe novo--Yuen2017 G
ANKS1B     AU038703chr12:
100295649-100295649
CTintronicDe novo--Yuen2017 G
ANKS1B     1-0406-003chr12:
100027883-100027883
CTintronicDe novo--Yuen2017 G
ANKS1B     AU018010chr12:
100020685-100020685
TCintronicDe novo--Yuen2017 G
ANKS1B     AU4079301chr12:
99569480-99569480
GAintronicDe novo--Yuen2017 G
ANKS1B     AU4215302chr12:
99152963-99152963
TCintronicDe novo--Yuen2017 G
ANKS1B     207-08-109930chr12:
100042600-100042600
AGintronicDe novo--Satterstrom2020 E
ANKS1B     1-0804-003chr12:
99339528-99339528
CGintronicDe novo--Yuen2017 G
ANKS1B     2-1485-004chr12:
100065313-100065313
CCTATCATAintronicDe novo--Yuen2017 G
ANKS1B     2-1459-003chr12:
99144370-99144370
TTGintronicDe novo--Yuen2016 G
ANKS1B     1-0345-004chr12:
99162688-99162688
AACTintronicDe novo--Yuen2017 G
ANKS1B     A9chr12:
99702565-99702565
TGintronicDe novo--Wu2018 G
ANKS1B     7-0104-003chr12:
99845332-99845332
TCintronicDe novo--Yuen2017 G
ANKS1B     3-0439-000chr12:
99682033-99682033
CAintronicDe novo--Yuen2016 G
ANKS1B     2-1594-003chr12:
99821647-99821647
GCintronicDe novo--Yuen2017 G
ANKS1B     2-1391-003chr12:
100236633-100236633
TGintronicDe novo--Yuen2017 G
ANKS1B     AU3849302chr12:
99430641-99430641
GAintronicDe novo--Yuen2017 G
ANKS1B     AU4233301chr12:
99572929-99572929
GAintronicDe novo--Yuen2017 G
ANKS1B     1-0494-003Achr12:
99685067-99685067
AGintronicDe novo--Yuen2017 G
ANKS1B     AU2410301chr12:
99769630-99769630
ATintronicDe novo--Yuen2017 G
ANKS1B     1-0638-003chr12:
99284596-99284596
CTintronicDe novo--Yuen2017 G
ANKS1B     2-0102-003chr12:
99822630-99822630
TCintronicDe novo--Yuen2017 G
ANKS1B     5-0073-003chr12:
99662851-99662851
CTintronicDe novo--Yuen2017 G
ANKS1B     AU1640302chr12:
99704829-99704829
GAintronicDe novo--Yuen2017 G
ANKS1B     5-0095-003chr12:
99753868-99753868
ATintronicDe novo--Yuen2017 G
ANKS1B     2-1485-003chr12:
100065313-100065313
CCTATCATAintronicDe novo--Yuen2017 G
ANKS1B     2-1341-004chr12:
99770429-99770429
GCintronicDe novo--Yuen2017 G
ANKS1B     AU1640302chr12:
99549531-99549531
CAintronicDe novo--Yuen2017 G
ANKS1B     5-0026-003chr12:
100375176-100375177
TATintronicDe novo--Yuen2017 G
ANKS1B     AU3680301chr12:
99845912-99845912
AGintronicDe novo--Yuen2017 G
ANKS1B     2-1365-003chr12:
99405407-99405407
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ANKS1B     AU2100302chr12:
99180042-99180042
CTintronicDe novo--Yuen2017 G
ANKS1B     2-1264-003chr12:
99544004-99544004
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ANKS1B     PN400584chr12:
99793570-99793572
ATGAexonicUnknownframeshift deletionNM_152788c.1593_1594delp.S531fs--Leblond2019 E
ANKS1B     1-0494-003chr12:
99685067-99685067
AGintronicDe novo--Yuen2017 G
ANKS1B     AU4191302chr12:
99957823-99957823
CGintronicDe novo--Yuen2017 G
ANKS1B     Cukier2014:17678chr12:
99837570-99837570
CTexonicUnknownnonsynonymous SNVNM_152788c.G1456Ap.A486T13.470.0121Cukier2014 E
ANKS1B     2-0002-005chr12:
100341378-100341378
TGintronicDe novo--Yuen2017 G
ANKS1B     1-0901-003chr12:
100421958-100421958
ATintergenicDe novo--Yuen2017 G
ANKS1B     2-1357-004chr12:
99819916-99819918
CAGCintronicDe novo--Yuen2017 G
ANKS1B     1-0025-004chr12:
99714965-99714965
CTintronicDe novo--Yuen2017 G
ANKS1B     AU4234303chr12:
99569607-99569607
TGintronicDe novo--Yuen2017 G
ANKS1B     AU3891303chr12:
99274922-99274922
AGintronicDe novo--Yuen2017 G
ANKS1B     AU4231301chr12:
99759656-99759656
CTintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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