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Results for "AHNAK2"

Variant Events: 19

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
AHNAK2     AU2292301chr14:
105410523-105410523
CTexonicDe novosynonymous SNVNM_138420c.G11265Ap.A3755A-4.142E-5Yuen2017 G
AHNAK2     AU146Achr14:
105410213-105410213
CTexonicDe novononsynonymous SNVNM_138420c.G11575Ap.D3859N13.591.657E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
AHNAK2     Lim2017:78723chr14:
105416546-105416546
TAexonicDe novononsynonymous SNVNM_138420c.A5242Tp.S1748C11.653.0E-4Lim2017 E
AHNAK2     10C103326chr14:
105411605-105411605
CGexonicDe novononsynonymous SNVNM_138420c.G10183Cp.E3395Q0.0041.657E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
AHNAK2     Shi2013:2chr14:
105406648-105406648
GAexonicInheritednonsynonymous SNVNM_138420c.C15140Tp.P5047L14.994.143E-5Shi2013 G
AHNAK2     AU2292302chr14:
105410523-105410523
CTexonicDe novosynonymous SNVNM_138420c.G11265Ap.A3755A-4.142E-5Yuen2017 G
AHNAK2     SSC04311chr14:
105413930-105413930
CTexonicMosaicnonsynonymous SNVNM_138420c.G7858Ap.A2620T14.938.284E-6Lim2017 E
AHNAK2     NP099chr14:
105413494-105413494
GAexonicMosaicnonsynonymous SNVNM_138420c.C8294Tp.A2765V9.4353.316E-5Lim2017 E
AHNAK2     G01-GEA-64-HIchr14:
105417283-105417283
GAexonicDe novononsynonymous SNVNM_138420c.C4505Tp.S1502L13.566.0E-4Satterstrom2020 E
AHNAK2     1-0566-003chr14:
105409857-105409857
CTexonicDe novosynonymous SNVNM_138420c.G11931Ap.S3977S-4.142E-5Yuen2017 G
AHNAK2     Shi2013:1chr14:
105406648-105406648
GAexonicInheritednonsynonymous SNVNM_138420c.C15140Tp.P5047L14.994.143E-5Shi2013 G
AHNAK2     AU024607chr14:
105426202-105426202
TCintronicDe novo--Yuen2017 G
AHNAK2     1-0404-003chr14:
105444812-105444812
CTupstreamDe novo--Yuen2017 G
AHNAK2     12219.p1chr14:
105410586-105410586
CAexonicDe novosynonymous SNVNM_138420c.G11202Tp.V3734V--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
AHNAK2     7-0001-003chr14:
105422809-105422809
CTintronicDe novo--Yuen2017 G
AHNAK2     12349.p1chr14:
105413930-105413930
CTexonicDe novononsynonymous SNVNM_138420c.G7858Ap.A2620T14.938.284E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
AHNAK2     1-0439-003chr14:
105423832-105423832
GAexonicDe novononsynonymous SNVNM_138420c.C128Tp.P43L9.686-Yuen2016 G
Yuen2017 G
AHNAK2     11480.p1 Complex Event; expand row to view variants  De novononsynonymous SNV, synonymous SNVNM_138420
NM_138420
c.T7410C
c.G7411C
p.S2470S
p.V2471L
0.5460.0299Iossifov2014 E
Iossifov2014 E
Kosmicki2017 E
Kosmicki2017 E
Satterstrom2020 E
Satterstrom2020 E
AHNAK2     09C81887chr14:
105410523-105410523
CTexonicDe novosynonymous SNVNM_138420c.G11265Ap.A3755A-4.142E-5Satterstrom2020 E
Source Variant Information

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Paper alias:

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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
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