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Results for "ZFYVE26"

Variant Events: 11

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
ZFYVE26     3-0448-000chr14:
68248071-68248071
CTexonicDe novosynonymous SNVNM_015346c.G4548Ap.A1516A-7.434E-5Yuen2017 G
ZFYVE26     12786.p1chr14:
68229583-68229583
CAintronicDe novo--Satterstrom2020 E
ZFYVE26     13176.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_015346
NM_015346
c.1190delG
c.1189delG
p.G397fs
p.G397fs
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Willsey2013 E
ZFYVE26     AU3451301chr14:
68224418-68224429
TTCTCTCTCTCTTTCTCTCTintronicDe novo--Yuen2017 G
ZFYVE26     AU065304chr14:
68236848-68236848
TCintronicDe novo--Yuen2017 G
ZFYVE26     AU133Achr14:
68242625-68242625
CTexonicDe novononsynonymous SNVNM_015346c.G5173Ap.A1725T33.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ZFYVE26     12451.p1chr14:
68229041-68229041
CTexonicDe novononsynonymous SNVNM_015346c.G6248Ap.R2083Q36.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G
ZFYVE26     05HI4324Achr14:
68251849-68251849
GAexonicDe novosynonymous SNVNM_015346c.C3450Tp.D1150D--Satterstrom2020 E
ZFYVE26     SSC05171chr14:
68229041-68229041
CTexonicDe novononsynonymous SNVNM_015346c.G6248Ap.R2083Q36.0-Lim2017 E
ZFYVE26     iHART2550chr14:
68271996-68272006
CCTGAGGAGCTCexonicPaternalframeshift deletionNM_015346c.1199_1208delp.E400fs--Ruzzo2019 G
ZFYVE26     iHART2549chr14:
68271996-68272006
CCTGAGGAGCTCexonicPaternalframeshift deletionNM_015346c.1199_1208delp.E400fs--Ruzzo2019 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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