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Results for "SSH1"

Variant Events: 9

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
SSH1     AU4215302chr12:
109250207-109250207
AGintronicDe novo--Yuen2017 G
SSH1     21183-33343chr12:
109186418-109186418
GAexonicInheritedstopgainNM_001161331
NM_001161330
NM_018984
c.C1570T
c.C1537T
c.C1537T
p.R524X
p.R513X
p.R513X
19.648.466E-6Callaghan2019 G
SSH1     2-1429-004chr12:
109230952-109230952
GAintronicDe novo--Yuen2017 G
SSH1     12693.p1chr12:
109221201-109221201
GAUTR5De novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SSH1     1-0339-003chr12:
109212542-109212542
TCintronicDe novo--Yuen2017 G
SSH1     AU245Achr12:
109182009-109182009
CTexonicDe novononsynonymous SNVNM_018984c.G2905Ap.V969I14.943.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
SSH1     PN400264chr12:
109200103-109200103
CGexonicUnknownnonsynonymous SNVNM_001161331
NM_001161330
NM_018984
c.G832C
c.G799C
c.G799C
p.D278H
p.D267H
p.D267H
32.0-Leblond2019 E
SSH1     AU2427301chr12:
109241392-109241392
CAintronicDe novo--Yuen2017 G
SSH1     08C75326chr12:
109221036-109221036
TGintronicDe novo--Satterstrom2020 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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