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Results for "INTS6"

Variant Events: 17

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     SP0029102chr13:
52027153-52027153
GCUTR5De novo--Fu2022 E
Trost2022 G
INTS6     1-1238-003chr13:
51988605-51988605
TGintronicDe novo--Trost2022 G
INTS6     SP0026215chr13:
51969429-51969433
AACTTAintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
INTS6     2-1237-002chr13:
51991787-51991787
TGintronicDe novo--Trost2022 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
Zhou2022 GE
INTS6     3-0398-000chr13:
51948087-51948088
GAGintronicDe novo--Trost2022 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
Trost2022 G
Wilfert2021 G
Zhou2022 GE
INTS6     5-0009-003chr13:
51967402-51967402
CTintronicDe novo--Trost2022 G
INTS6     14265_p1chr13:
52004449-52004449
GAexonicDe novononsynonymous SNVNM_012141
NM_001039937
c.C410T
c.C371T
p.T137I
p.T124I
13.98-Fu2022 E
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-Antaki2022 GE
Lim2017 E
INTS6     SSC11114chr13:
52004449-52004449
GAexonicnonsynonymous SNVNM_012141
NM_001039937
c.C410T
c.C371T
p.T137I
p.T124I
13.98-Antaki2022 GE
INTS6     SP0095130chr13:
51963371-51963371
GAintronicDe novo--Fu2022 E
INTS6     AU3853302chr13:
51961961-51961961
CTintronicDe novo--Trost2022 G
Yuen2017 G
INTS6     mAGRE5105chr13:
51956211-51956211
TGexonicDe novononsynonymous SNVNM_012141
NM_001039937
NM_001306091
c.A1229C
c.A1190C
c.A695C
p.Q410P
p.Q397P
p.Q232P
21.6-Cirnigliaro2023 G
INTS6     1-0385-003chr13:
51978951-51978951
TCintronicDe novo--Trost2022 G
Yuen2017 G
INTS6     mAGRE5104chr13:
51956211-51956211
TGexonicDe novononsynonymous SNVNM_012141
NM_001039937
NM_001306091
c.A1229C
c.A1190C
c.A695C
p.Q410P
p.Q397P
p.Q232P
21.6-Cirnigliaro2023 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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