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Results for "TNFRSF8"

Variant Events: 10

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
TNFRSF8     1-0121-003chr1:
12160337-12160337
GCintronicDe novo--Yuen2017 G
TNFRSF8     14441.p1chr1:
12218613-12218613
CTintergenicDe novo--Wilfert2021 G
TNFRSF8     5-0026-003chr1:
12136144-12136144
TTCintronicDe novo--Yuen2017 G
TNFRSF8     AU3997302chr1:
12150677-12150677
CTintronicDe novo--Yuen2017 G
TNFRSF8     SP0028519chr1:
12183819-12183819
CTexonicDe novononsynonymous SNVNM_001281430
NM_001243
c.C755T
c.C1088T
p.T252M
p.T363M
14.54-Feliciano2019 E
TNFRSF8     Cukier2014:37037chr1:
12175658-12175658
GAexonicUnknownnonsynonymous SNVNM_001281430
NM_001243
c.G485A
c.G818A
p.C162Y
p.C273Y
11.160.0076Cukier2014 E
TNFRSF8     SSC04635chr1:
12175787-12175787
GAsplicingMosaicsplicing13.68-Lim2017 E
TNFRSF8     12340.p1chr1:
12175787-12175787
GAsplicingMosaic, De novosplicing13.68-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
TNFRSF8     7-0130-003chr1:
12128352-12128352
CTintronicDe novo--Yuen2017 G
TNFRSF8     1-0935-003chr1:
12199844-12199844
ACintronicDe 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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