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Results for "TSGA10"

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
TSGA10     1-0387-003chr2:
99613346-99613346
TCdownstreamDe novo--Yuen2016 G
Yuen2017 G
TSGA10     2-1375-003chr2:
99749363-99749363
GTintronicDe novo--Yuen2016 G
Yuen2017 G
TSGA10     DEASD_0231_001chr2:
99681512-99681512
GAexonicMosaicnonsynonymous SNVNM_182911
NM_025244
c.C1294T
c.C1294T
p.R432C
p.R432C
23.38.241E-6Lim2017 E
TSGA10     AU3517302chr2:
99663130-99663130
AGintronicDe novo--Yuen2017 G
TSGA10     AU4152303chr2:
99688814-99688814
CAintronicDe novo--Yuen2017 G
TSGA10     AU3997302chr2:
99659190-99659190
GAintronicDe novo--Yuen2017 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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