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Results for "PTCD3"

Variant Events: 12

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
PTCD3     SP0007815chr2:
86360263-86360263
GAintronicDe novo--Fu2022 E
Trost2022 G
PTCD3     AU220Achr2:
86333407-86333407
CTexonicDe novononsynonymous SNVNM_017952c.C37Tp.R13C13.611.701E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PTCD3     SP0224565chr2:
86350891-86350891
TGintronicDe novo--Trost2022 G
PTCD3     SSC08334chr2:
86360601-86360601
AGintronicDe novo-1.659E-5Trost2022 G
PTCD3     SSC08908chr2:
86338150-86338156
GCCAGTAGintronicDe novo--Trost2022 G
PTCD3     SP0061818chr2:
86350889-86350889
TGintronicDe novo--Trost2022 G
PTCD3     MT_156.3chr2:
86336115-86336115
ATintronicDe novo--Trost2022 G
PTCD3     iHART2310chr2:
86344194-86344198
CAAAGCexonicPaternalframeshift deletionNM_017952c.327_330delp.A109fs-3.416E-5Ruzzo2019 G
PTCD3     13823.p1chr2:
86338150-86338156
GCCAGTAGintronicDe novo--Satterstrom2020 E
PTCD3     13625.p1chr2:
86360601-86360601
AGintronicDe novo-1.659E-5Satterstrom2020 E
PTCD3     AU3175303chr2:
86359528-86359528
CTexonicMaternalstopgainNM_017952c.C1354Tp.Q452X13.3-Cirnigliaro2023 G
PTCD3     mAGRE2310chr2:
86344194-86344198
CAAAGCexonicPaternalframeshift deletionNM_017952c.327_330delp.A109fs-3.416E-5Cirnigliaro2023 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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