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Results for "AHNAK2"

Variant Events: 35

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     AU146Achr14:
105410213-105410213
CTexonicDe novononsynonymous SNVNM_138420c.G11575Ap.D3859N13.591.657E-5DeRubeis2014 E
Fu2022 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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
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     1-0404-003chr14:
105444812-105444812
CTupstreamDe novo--Yuen2017 G
AHNAK2     1-0439-003chr14:
105423832-105423832
GAexonicDe novononsynonymous SNVNM_138420c.C128Tp.P43L9.686-Yuen2016 G
Yuen2017 G
AHNAK2     SP0006598chr14:
105414705-105414705
GCexonicDe novosynonymous SNVNM_138420c.C7083Gp.L2361L-1.0E-4Fu2022 E
AHNAK2     AU2292301chr14:
105410523-105410523
CTexonicDe novosynonymous SNVNM_138420c.G11265Ap.A3755A-4.142E-5Yuen2017 G
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     SP0048964chr14:
105413604-105413604
TGexonicDe novononsynonymous SNVNM_138420c.A8184Cp.K2728N11.21-Fu2022 E
AHNAK2     SP0029197chr14:
105412661-105412661
CTexonicDe novononsynonymous SNVNM_138420c.G9127Ap.D3043N9.628-Fu2022 E
AHNAK2     SP0099697chr14:
105420538-105420538
GAexonicDe novononsynonymous SNVNM_138420c.C1250Tp.A417V17.04-Fu2022 E
AHNAK2     SP0056742chr14:
105418768-105418768
GAexonicDe novononsynonymous SNVNM_138420c.C3020Tp.S1007L14.352.485E-5Fu2022 E
AHNAK2     Shi2013:1chr14:
105406648-105406648
GAexonicInheritednonsynonymous SNVNM_138420c.C15140Tp.P5047L14.994.143E-5Shi2013 G
AHNAK2     AU024607chr14:
105426202-105426202
TCintronicDe novo--Yuen2017 G
AHNAK2     SP0043377chr14:
105411797-105411797
CGexonicDe novononsynonymous SNVNM_138420c.G9991Cp.V3331L2.3515.0E-4Fu2022 E
AHNAK2     CC1310_202chr14:
105411814-105411814
TCexonicDe novononsynonymous SNVNM_138420c.A9974Gp.K3325R15.235.0E-4Fu2022 E
AHNAK2     10005091020351916-Cchr14:
105405185-105405185
AGexonicDe novononsynonymous SNVNM_138420c.T16603Cp.Y5535H14.97-Fu2022 E
AHNAK2     SP0041146chr14:
105418317-105418317
ACexonicDe novosynonymous SNVNM_138420c.T3471Gp.T1157T-1.658E-5Fu2022 E
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     SP0037663chr14:
105405363-105405363
TCexonicDe novosynonymous SNVNM_138420c.A16425Gp.Q5475Q--Fu2022 E
AHNAK2     12349.p1chr14:
105413930-105413930
CTexonicDe novononsynonymous SNVNM_138420c.G7858Ap.A2620T14.938.284E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
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     SP0145105chr14:
105421577-105421577
GAintronicDe novo--Fu2022 E
AHNAK2     13679_p1chr14:
105413868-105413868
AGexonicDe novosynonymous SNVNM_138420c.T7920Cp.G2640G-1.0E-4Fu2022 E
AHNAK2     10C108733chr14:
105423832-105423832
GAexonicDe novononsynonymous SNVNM_138420c.C128Tp.P43L9.686-Fu2022 E
AHNAK2     SSC08003chr14:
105418217-105418217
GCexonicDe novononsynonymous SNVNM_138420c.C3571Gp.P1191A10.99-Fu2022 E
AHNAK2     GM180281chr14:
105411429-105411429
CTexonicDe novosynonymous SNVNM_138420c.G10359Ap.A3453A-1.0E-4Fu2022 E
AHNAK2     09C81887chr14:
105410523-105410523
CTexonicDe novosynonymous SNVNM_138420c.G11265Ap.A3755A-4.142E-5Fu2022 E
Satterstrom2020 E
AHNAK2     12219_p1chr14:
105410586-105410586
CAexonicDe novosynonymous SNVNM_138420c.G11202Tp.V3734V--Fu2022 E
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
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