Variant Results

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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

AU2248302

chr3:
122858917-122858917

G

A

intronic

De novo

-

-

Yuen2017 G

PDIA5

12175.p1

chr3:
122849292-122849292

C

T

intronic

De novo

-

-

Satterstrom2020 E
Turner2016 G

PDIA5

iHART1244

chr3:
122821257-122821257

G

A

splicing

Maternal

splicing

19.28

-

Ruzzo2019 G

PDIA5

1-0006-004

chr3:
122889943-122889943

G

A

intergenic

De novo

-

-

Yuen2017 G

PDIA5

2-0116-005

chr3:
122906545-122906545

G

A

intergenic

De novo

-

-

Yuen2017 G

PDIA5

3-0309-000

chr3:
122864390-122864390

T

C

exonic

De novo

nonsynonymous SNV

NM_006810

c.T932C

p.M311T

22.6

Tammimies2015 E

PDIA5

AU3915301

chr3:
122821498-122821498

C

T

intronic

De novo

-

-

Yuen2017 G

PDIA5

1-0265-004

chr3:
122914288-122914291

CTTT

C

intergenic

De novo

-

-

Yuen2017 G

PDIA5

5-0106-003

chr3:
122887285-122887285

T

C

intergenic

De novo

-

-

Yuen2017 G

PDIA5

AU072005

chr3:
122918185-122918185

T

C

intergenic

De novo

-

-

Yuen2017 G

PDIA5

1-0582-003

chr3:
122870862-122870869

TCCTGCCT

TCCT

intronic

De novo

-

-

Yuen2017 G

PDIA5

AU4153301

chr3:
122819460-122819460

G

A

intronic

De novo

-

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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