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Results for "TBXAS1"

Variant Events: 16

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
TBXAS1     2-1223-003chr7:
139609788-139609788
CTintronicDe novo--Yuen2017 G
TBXAS1     Chen2017:117chr7:
139652364-139652364
CTexonicDe novosynonymous SNVNM_001166253c.C468Tp.I156I--Chen2017 E
TBXAS1     2-1594-003chr7:
139706398-139706398
TCintronicDe novo--Yuen2017 G
TBXAS1     AU031403chr7:
139504286-139504286
GTintronicDe novo--Yuen2017 G
TBXAS1     1-0126-004chr7:
139563067-139563067
GAintronicDe novo--Yuen2017 G
TBXAS1     1-0450-003chr7:
139535014-139535014
CTintronicDe novo--Yuen2017 G
TBXAS1     08C77155chr7:
139661813-139661813
CTexonicDe novosynonymous SNVNM_001061
NM_001314028
NM_030984
NM_001166253
NM_001166254
NM_001130966
c.C918T
c.C858T
c.C918T
c.C1056T
c.C714T
c.C918T
p.S306S
p.S286S
p.S306S
p.S352S
p.S238S
p.S306S
--Satterstrom2020 E
TBXAS1     200675725@1082034211chr7:
139652364-139652364
CTexonicDe novosynonymous SNVNM_001166253c.C468Tp.I156I--Satterstrom2020 E
TBXAS1     1-0067-005chr7:
139504279-139504279
CGintronicDe novo--Yuen2017 G
TBXAS1     AU3637301chr7:
139681211-139681211
GAintronicDe novo--Yuen2017 G
TBXAS1     1-1004-003chr7:
139560210-139560210
GAintronicDe novo--Yuen2017 G
TBXAS1     2-1350-004chr7:
139511287-139511287
CTintronicDe novo--Yuen2017 G
TBXAS1     1-0043-003chr7:
139532138-139532138
AAGAATTintronicDe novo--Yuen2017 G
TBXAS1     1-0112-003chr7:
139567879-139567879
CTintronicDe novo--Yuen2017 G
TBXAS1     2-1461-003chr7:
139710614-139710614
GAintronicDe novo--Yuen2017 G
TBXAS1     AU3506302chr7:
139571897-139571897
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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