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Results for "TBX20"

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
TBX20     EGAN00001101197chr7:
35288313-35288313
TCexonicDe novononsynonymous SNVNM_001077653
NM_001166220
c.A521G
c.A521G
p.K174R
p.K174R
34.01.708E-5Fu2022 E
TBX20     SP0092628chr7:
35280601-35280601
TGexonicDe novononsynonymous SNVNM_001077653
NM_001166220
c.A703C
c.A703C
p.K235Q
p.K235Q
19.1-Fu2022 E
Trost2022 G
Zhou2022 GE
TBX20     2-0088-003chr7:
35319555-35319555
TGintergenicDe novo--Yuen2017 G
TBX20     11572.p1chr7:
35290467-35290467
GAintronicDe novo--Turner2016 G
TBX20     7-0395-003chr7:
35266453-35266453
CTintronicDe novo--Trost2022 G
TBX20     MSSNG00250-003chr7:
35279036-35279036
GAintronicDe novo--Trost2022 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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