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Results for "TCAIM"

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
TCAIM     5-0095-003chr3:
44465126-44465126
ACintergenicDe novo--Yuen2017 G
TCAIM     AU006804chr3:
44387207-44387207
GAintronicDe novo--Yuen2017 G
TCAIM     1-0107-003chr3:
44471257-44471257
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
TCAIM     3-0439-000chr3:
44382458-44382458
GAintronicDe novo--Yuen2016 G
TCAIM     iHART2070chr3:
44409116-44409116
GAexonicMaternalstopgainNM_001282913
NM_001282914
NM_001282915
NM_173826
c.G488A
c.G56A
c.G56A
c.G488A
p.W163X
p.W19X
p.W19X
p.W163X
37.0-Ruzzo2019 G
TCAIM     iHART2072chr3:
44409116-44409116
GAexonicMaternalstopgainNM_001282913
NM_001282914
NM_001282915
NM_173826
c.G488A
c.G56A
c.G56A
c.G488A
p.W163X
p.W19X
p.W19X
p.W163X
37.0-Ruzzo2019 G
TCAIM     2-1635-004chr3:
44479990-44479990
GAintergenicDe novo--Yuen2017 G
TCAIM     5-0111-003chr3:
44440900-44440900
AGintronicDe novo--Yuen2017 G
TCAIM     Codina-Sola2015:ASD_27chr3:
44441934-44441934
CTexonicMaternalstopgainNM_001282913
NM_001282914
NM_001282915
NM_173826
c.C973T
c.C541T
c.C541T
c.C973T
p.Q325X
p.Q181X
p.Q181X
p.Q325X
39.0-Codina-Sola2015 E
TCAIM     2-1315-003chr3:
44420085-44420085
GAintronicDe novo--Yuen2016 G
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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