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Results for "TGFBR2"

Variant Events: 12

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
TGFBR2     1-0582-003chr3:
30747659-30747659
TCintergenicDe novo--Yuen2017 G
TGFBR2     AU072904chr3:
30652114-30652114
GAintronicDe novo--Yuen2017 G
TGFBR2     AU2248302chr3:
30680163-30680163
TAintronicDe novo--Yuen2017 G
TGFBR2     Li2017:17629chr3:
30729969-30729969
GAexonicUnknownnonsynonymous SNVNM_003242
NM_001024847
c.G1490A
c.G1565A
p.R497Q
p.R522Q
36.08.261E-6Li2017 T
TGFBR2     G01-GEA-96-HIchr3:
30715656-30715656
TCexonicMosaic, De novosynonymous SNVNM_003242
NM_001024847
c.T1314C
c.T1389C
p.N438N
p.N463N
-8.237E-6Lim2017 E
Satterstrom2020 E
TGFBR2     Li2017:18479chr3:
30733030-30733030
CTexonicUnknownnonsynonymous SNVNM_003242
NM_001024847
c.C1643T
c.C1718T
p.S548L
p.S573L
21.12.472E-5Li2017 T
TGFBR2     Li2017:19708chr3:
30686237-30686237
AGsplicingUnknownsplicing10.162.557E-5Li2017 T
TGFBR2     2-1235-004chr3:
30751136-30751136
ACintergenicDe novo--Yuen2017 G
TGFBR2     AU4013302chr3:
30744091-30744091
ATintergenicDe novo--Yuen2017 G
TGFBR2     A17chr3:
30689161-30689161
AAATTintronicDe novo--Wu2018 G
TGFBR2     7-0253-003chr3:
30710952-30710952
GAintronicDe novo--Yuen2017 G
TGFBR2     Li2017:19729chr3:
30713451-30713451
AGexonicUnknownnonsynonymous SNVNM_003242
NM_001024847
c.A776G
c.A851G
p.Y259C
p.Y284C
18.332.486E-5Li2017 T
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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