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Results for "AHNAK2"

Variant Events: 42

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     13679.p1chr14:
105413868-105413868		AGexonicsynonymous SNVNM_138420c.T7920Cp.G2640G-1.0E-4Zhou2022 GE
AHNAK2     AU146Achr14:
105410213-105410213		CTexonicDe novononsynonymous SNVNM_138420c.G11575Ap.D3859N13.591.657E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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
Trost2022 G
Zhou2022 GE
AHNAK2     REACH000564chr14:
105421473-105421473		GCexonicnonsynonymous SNVNM_138420c.C472Gp.Q158E14.25-Zhou2022 GE
AHNAK2     SP0099916chr14:
105416757-105416757		GAexonicsynonymous SNVNM_138420c.C5031Tp.I1677I-1.0E-4Zhou2022 GE
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     Wang2023:642chr14:
105417721-105417721		GCexonicDe novononsynonymous SNVNM_138420c.C4067Gp.P1356R13.12-Wang2023 E
AHNAK2     G01-GEA-64-HIchr14:
105417283-105417283		GAexonicDe novononsynonymous SNVNM_138420c.C4505Tp.S1502L13.566.0E-4Satterstrom2020 E
Trost2022 G
Zhou2022 GE
AHNAK2     1-0566-003chr14:
105409857-105409857		CTexonicDe novosynonymous SNVNM_138420c.G11931Ap.S3977S-4.142E-5Yuen2017 G
Zhou2022 GE
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
Zhou2022 GE
AHNAK2     SP0006598chr14:
105414705-105414705		GCexonicDe novosynonymous SNVNM_138420c.C7083Gp.L2361L-1.0E-4Fu2022 E
AHNAK2     7-0324-003chr14:
105402925-105402925		GAdownstreamDe novo--Trost2022 G
AHNAK2     AU2292301chr14:
105410523-105410523		CTexonicDe novosynonymous SNVNM_138420c.G11265Ap.A3755A-4.142E-5Yuen2017 G
Zhou2022 GE
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
Zhou2022 GE
AHNAK2     MCD-028-3chr14:
105414461-105414461		CGexonicPaternalnonsynonymous SNVNM_138420c.G7327Cp.E2443Q8.7672.0E-4Tuncay2023 G
AHNAK2     SP0048964chr14:
105413604-105413604		TGexonicDe novononsynonymous SNVNM_138420c.A8184Cp.K2728N11.21-Fu2022 E
Zhou2022 GE
AHNAK2     SP0029197chr14:
105412661-105412661		CTexonicDe novononsynonymous SNVNM_138420c.G9127Ap.D3043N9.628-Fu2022 E
Zhou2022 GE
AHNAK2     SP0099697chr14:
105420538-105420538		GAexonicDe novononsynonymous SNVNM_138420c.C1250Tp.A417V17.04-Fu2022 E
Zhou2022 GE
AHNAK2     SP0056742chr14:
105418768-105418768		GAexonicDe novononsynonymous SNVNM_138420c.C3020Tp.S1007L14.352.485E-5Fu2022 E
Zhou2022 GE
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     MCD-028-3chr14:
105416755-105416755		TGexonicMaternalnonsynonymous SNVNM_138420c.A5033Cp.E1678A11.165.883E-5Tuncay2023 G
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
Zhou2022 GE
AHNAK2     12219.p1chr14:
105410586-105410586		CAexonicDe novosynonymous SNVNM_138420c.G11202Tp.V3734V--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Zhou2022 GE
AHNAK2     7-0001-003chr14:
105422809-105422809		CTintronicDe novo--Yuen2017 G
AHNAK2     SP0037663chr14:
105405363-105405363		TCexonicDe novosynonymous SNVNM_138420c.A16425Gp.Q5475Q--Fu2022 E
Zhou2022 GE
AHNAK2     12349.p1chr14:
105413930-105413930		CTexonicDe novononsynonymous SNVNM_138420c.G7858Ap.A2620T14.938.284E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Zhou2022 GE
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
Trost2022 G
Trost2022 G
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
Trost2022 G
Zhou2022 GE
AHNAK2     12219_p1chr14:
105410586-105410586		CAexonicDe novosynonymous SNVNM_138420c.G11202Tp.V3734V--Fu2022 E
Source Variant Information

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Source:

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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