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Results for "PDIA5"

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
PDIA5     3-0309-000chr3:
122864390-122864390
TCexonicDe novononsynonymous SNVNM_006810c.T932Cp.M311T22.64.119E-5Tammimies2015 E
PDIA5     AU3915301chr3:
122821498-122821498
CTintronicDe novo--Yuen2017 G
PDIA5     AU2248302chr3:
122858917-122858917
GAintronicDe novo--Yuen2017 G
PDIA5     1-0265-004chr3:
122914288-122914291
CTTTCintergenicDe novo--Yuen2017 G
PDIA5     5-0106-003chr3:
122887285-122887285
TCintergenicDe novo--Yuen2017 G
PDIA5     12175.p1chr3:
122849292-122849292
CTintronicDe novo--Satterstrom2020 E
Turner2016 G
PDIA5     iHART1244chr3:
122821257-122821257
GAsplicingMaternalsplicing19.28-Ruzzo2019 G
PDIA5     1-0006-004chr3:
122889943-122889943
GAintergenicDe novo--Yuen2017 G
PDIA5     AU072005chr3:
122918185-122918185
TCintergenicDe novo--Yuen2017 G
PDIA5     1-0582-003chr3:
122870862-122870869
TCCTGCCTTCCTintronicDe novo--Yuen2017 G
PDIA5     2-0116-005chr3:
122906545-122906545
GAintergenicDe novo--Yuen2017 G
PDIA5     AU4153301chr3:
122819460-122819460
GAintronicDe novo--Yuen2017 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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