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Results for "FAM129B"

Variant Events: 6

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
FAM129B     1-0203-003chr9:
130289051-130289051
CAintronicDe novo--Yuen2017 G
FAM129B     12975.p1chr9:
130270790-130270790
CTexonicDe novononsynonymous SNVNM_001035534
NM_022833
c.G1306A
c.G1345A
p.E436K
p.E449K
35.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
FAM129B     13942.p1chr9:
130309744-130309744
TAintronicDe novo--Turner2016 G
FAM129B     7-0127-003chr9:
130273924-130273925
CACintronicDe novo--Yuen2017 G
FAM129B     SSC06417chr9:
130270790-130270790
CTexonicDe novononsynonymous SNVNM_001035534
NM_022833
c.G1306A
c.G1345A
p.E436K
p.E449K
35.0-Lim2017 E
FAM129B     13160.p1chr9:
130279248-130279248
GAexonicDe novosynonymous SNVNM_001035534
NM_022833
c.C822T
c.C861T
p.F274F
p.F287F
-1.651E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 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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