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Results for "PAFAH1B2"

Variant Events: 4

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
PAFAH1B2     AU2427302chr11:
117023216-117023216
TCexonicDe novononsynonymous SNVNM_001184746
NM_001184747
NM_001184748
NM_002572
c.T53C
c.T53C
c.T53C
c.T53C
p.I18T
p.I18T
p.I18T
p.I18T
12.211.0E-4Yuen2017 G
PAFAH1B2     12438.p1chr11:
117034592-117034592
CGsplicing;exonicDe novononsynonymous SNVNM_001309431
NM_001184746
NM_001184747
NM_002572
c.C251G
c.C395G
c.C395G
c.C395G
p.A84G
p.A132G
p.A132G
p.A132G
27.6-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
PAFAH1B2     13942.p1chr11:
117020068-117020068
AGintronicDe novo--Turner2016 G
PAFAH1B2     SSC05260chr11:
117034592-117034592
CGsplicing;exonicDe novononsynonymous SNVNM_001309431
NM_001184746
NM_001184747
NM_002572
c.C251G
c.C395G
c.C395G
c.C395G
p.A84G
p.A132G
p.A132G
p.A132G
27.6-Lim2017 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
Curation notesView
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