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Results for "INTS7"

Variant Events: 11

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
INTS7     AU1742302chr1:
212139030-212139030
GAintronicDe novo--Yuen2017 G
INTS7     AU3859301chr1:
212204566-212204566
TCintronicDe novo--Yuen2017 G
INTS7     2-1408-004chr1:
212148046-212148046
AGintronicDe novo--Yuen2017 G
INTS7     SSC04824chr1:
212190300-212190300
CGexonicDe novononsynonymous SNVNM_001199809
NM_001199811
NM_001199812
NM_015434
c.G290C
c.G437C
c.G437C
c.G437C
p.S97T
p.S146T
p.S146T
p.S146T
30.0-Lim2017 E
INTS7     12494.p1chr1:
212190300-212190300
CGexonicMosaic, De novononsynonymous SNVNM_001199809
NM_001199811
NM_001199812
NM_015434
c.G290C
c.G437C
c.G437C
c.G437C
p.S97T
p.S146T
p.S146T
p.S146T
30.0-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
INTS7     2-1336-004chr1:
212117205-212117205
AGintronicDe novo--Yuen2017 G
INTS7     09C85947chr1:
212179999-212179999
CTexonicDe novostopgainNM_001199809
NM_001199811
NM_001199812
NM_015434
c.G714A
c.G861A
c.G861A
c.G861A
p.W238X
p.W287X
p.W287X
p.W287X
36.0-Satterstrom2020 E
INTS7     A11chr1:
212114442-212114442
TCUTR3De novo--Wu2018 G
INTS7     iHART2227chr1:
212154449-212154449
GAexonicPaternalstopgainNM_001199809
NM_001199811
NM_001199812
NM_015434
c.C1069T
c.C1216T
c.C1216T
c.C1216T
p.Q357X
p.Q406X
p.Q406X
p.Q406X
39.0-Ruzzo2019 G
INTS7     AU4473301chr1:
212127377-212127377
AGintronicDe novo--Yuen2017 G
INTS7     iHART1454chr1:
212115222-212115222
GAexonicMaternalstopgainNM_001199809
NM_001199811
NM_001199812
NM_015434
c.C2686T
c.C2791T
c.C2773T
c.C2833T
p.Q896X
p.Q931X
p.Q925X
p.Q945X
40.0-Ruzzo2019 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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