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Results for "ANKS1A"

Variant Events: 16

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
ANKS1A     2-1529-003chr6:
35070184-35070184
CGintergenicDe novo--Yuen2017 G
ANKS1A     2-0208-003chr6:
35070139-35070139
CCTCCATCTintergenicDe novo--Yuen2017 G
ANKS1A     7-0249-003chr6:
35065281-35065281
GAintergenicDe novo--Yuen2017 G
ANKS1A     AU050604chr6:
35011893-35011893
CGintronicDe novo--Yuen2017 G
ANKS1A     7-0247-003chr6:
34901913-34901940
TTTTATTTATTTATTTATTTATTTATTTTTTTATTTATTTATTTATTTATTTintronicDe novo--Yuen2017 G
ANKS1A     1-0206-003chr6:
35055607-35055607
TCintronicDe novo--Yuen2017 G
ANKS1A     13964.p1chr6:
35020608-35020608
CTintronicDe novo--Turner2016 G
ANKS1A     2-1721-003chr6:
35030168-35030168
GCintronicDe novo--Yuen2017 G
ANKS1A     08C76303chr6:
35054062-35054062
GAintronicDe novo28.56.997E-5Satterstrom2020 E
ANKS1A     1-0197-003chr6:
34889385-34889385
AGintronicDe novo--Yuen2017 G
ANKS1A     5-0111-003chr6:
34974185-34974185
ATintronicDe novo--Yuen2017 G
ANKS1A     126-11-113837chr6:
35047364-35047364
GAexonicDe novosynonymous SNVNM_015245c.G2355Ap.Q785Q--Satterstrom2020 E
ANKS1A     AU021204chr6:
34897513-34897528
CTCTTTCTTTCTTTCTCTCTTTCTTTCTintronicDe novo--Yuen2017 G
ANKS1A     2-0129-004chr6:
34980414-34980430
GAAGTGTTATTATTCAAGintronicDe novo--Yuen2017 G
ANKS1A     AU02304chr6:
34985466-34985466
CTexonicDe novononsynonymous SNVNM_015245c.C1640Tp.T547M10.524.989E-5DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
ANKS1A     2-1422-003chr6:
35072983-35072983
TCintergenicDe novo--Yuen2016 G
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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