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Results for "INTS6"

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
INTS6     A5chr13:
51994469-51994469
TTTintronicDe novo--Wu2018 G
INTS6     14687.p1chr13:
51948834-51948834
GAexonicMosaic, De novostopgainNM_012141
NM_001039937
NM_001306091
c.C1828T
c.C1789T
c.C1294T
p.R610X
p.R597X
p.R432X
50.0-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Wilfert2021 G
INTS6     14265.p1chr13:
52004449-52004449
GAexonicMosaic, De novononsynonymous SNVNM_012141
NM_001039937
c.C410T
c.C371T
p.T137I
p.T124I
13.98-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
INTS6     AU3853302chr13:
51961961-51961961
CTintronicDe novo--Yuen2017 G
INTS6     1-0385-003chr13:
51978951-51978951
TCintronicDe novo--Yuen2017 G
INTS6     SSC12226chr13:
51948834-51948834
GAexonicDe novostopgainNM_012141
NM_001039937
NM_001306091
c.C1828T
c.C1789T
c.C1294T
p.R610X
p.R597X
p.R432X
50.0-Lim2017 E
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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