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Results for "APAF1"

Variant Events: 8

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
APAF1     AU2381302chr12:
99126290-99126290
AGexonicDe novosynonymous SNVNM_001160
NM_181868
NM_013229
NM_181861
c.A3531G
c.A3564G
c.A3660G
c.A3693G
p.T1177T
p.T1188T
p.T1220T
p.T1231T
--Yuen2017 G
APAF1     09C90228chr12:
99126290-99126290
AGexonicDe novosynonymous SNVNM_001160
NM_181868
NM_013229
NM_181861
c.A3531G
c.A3564G
c.A3660G
c.A3693G
p.T1177T
p.T1188T
p.T1220T
p.T1231T
--Satterstrom2020 E
APAF1     AU076509chr12:
99038871-99038871
GTupstreamDe novo--Yuen2017 G
APAF1     AU3862305chr12:
99105131-99105131
GCintronicDe novo--Yuen2017 G
APAF1     2-0300-003chr12:
99083705-99083705
TGintronicDe novo--Yuen2017 G
APAF1     11722.p1chr12:
99076979-99076979
TCexonicDe novononsynonymous SNVNM_001160
NM_013229
NM_181861
NM_181868
c.T2072C
c.T2072C
c.T2105C
c.T2105C
p.V691A
p.V691A
p.V702A
p.V702A
24.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
APAF1     2-0296-004chr12:
99039073-99039073
CGupstreamDe novo--Yuen2017 G
APAF1     Lim2017:5432chr12:
99076979-99076979
TCexonicDe novononsynonymous SNVNM_001160
NM_013229
NM_181861
NM_181868
c.T2072C
c.T2072C
c.T2105C
c.T2105C
p.V691A
p.V691A
p.V702A
p.V702A
24.3-Lim2017 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
Curation notesView
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