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Results for "PTCD1"

Variant Events: 8

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
PTCD1     NDAR_INVYC397NYA_wes1chr7:
99021500-99021500
GAexonicDe novosynonymous SNVNM_015545
NM_001198879
c.C1818T
c.C1965T
p.L606L
p.L655L
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PTCD1     11572.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
PTCD1     AU2437302chr7:
99033117-99033117
CTintronicDe novo--Yuen2017 G
PTCD1     177-10-113360chr7:
99017541-99017541
CAUTR3De novo--Satterstrom2020 E
PTCD1     AU024104chr7:
99025701-99025701
AGintronicDe novo--Yuen2017 G
PTCD1     iHART1025chr7:
99032834-99032842
GCGAACAGTGexonicMaternalframeshift deletionNM_015545
NM_001198879
c.24_31del
c.171_178del
p.R8fs
p.R57fs
-8.437E-6Ruzzo2019 G
PTCD1     iHART1627chr7:
99032453-99032453
CTexonicPaternalstopgainNM_015545
NM_001198879
c.G413A
c.G560A
p.W138X
p.W187X
33.0-Ruzzo2019 G
PTCD1     iHART1630chr7:
99032453-99032453
CTexonicPaternalstopgainNM_015545
NM_001198879
c.G413A
c.G560A
p.W138X
p.W187X
33.0-Ruzzo2019 G
Source Variant Information

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Source:

Paper alias:

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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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