Variant Results

or

Results for "PDIA6"

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

PDIA6

2-1408-004

chr2:
10979536-10979536

A

G

intergenic

De novo

-

Yuen2017 G

PDIA6

Lim2017:4896

chr2:
10931993-10931993

T

C

exonic

De novo

nonsynonymous SNV

NM_005742
NM_001282705
NM_001282706
NM_001282707
NM_001282704

c.A512G
c.A656G
c.A527G
c.A503G
c.A668G

p.D171G
p.D219G
p.D176G
p.D168G
p.D223G

15.76

-

Lim2017 E

PDIA6

1-0440-003

chr2:
10957995-10957995

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDIA6

13812.p1

chr2:
10931993-10931993

T

C

exonic

De novo

nonsynonymous SNV

NM_005742
NM_001282705
NM_001282706
NM_001282707
NM_001282704

c.A512G
c.A656G
c.A527G
c.A503G
c.A668G

p.D171G
p.D219G
p.D176G
p.D168G
p.D223G

15.76

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PDIA6

MSSNG00220-003

chr2:
10962317-10962317

G

A

intronic

De novo

-

Trost2022 G

PDIA6

1-0965-003

chr2:
10959638-10959638

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PDIA6

4-0092-003

chr2:
10961373-10961373

A

G

intronic

De novo

-

Trost2022 G

PDIA6

MSSNG00353-003

chr2:
10938245-10938245

G

C

intronic

De novo

-

Trost2022 G

PDIA6

SP0141796

chr2:
10927417-10927417

C

T

exonic

De novo

nonsynonymous SNV

NM_005742
NM_001282705
NM_001282706
NM_001282707
NM_001282704

c.G1147A
c.G1291A
c.G1162A
c.G1138A
c.G1303A

p.E383K
p.E431K
p.E388K
p.E380K
p.E435K

36.0

-

Trost2022 G

PDIA6

mAGRE5385

chr2:
10977695-10977695

G

A

exonic

Paternal

stopgain

NM_001282705

c.C37T

p.R13X

27.6

8.12E-5

Cirnigliaro2023 G

PDIA6

2-1358-003

chr2:
10978060-10978060

G

T

UTR5

De novo

-

Yuen2017 G

PDIA6

4896

chr2:
10931993-10931993

T

C

exonic

De novo

nonsynonymous SNV

NM_005742
NM_001282705
NM_001282706
NM_001282707
NM_001282704

c.A512G
c.A656G
c.A527G
c.A503G
c.A668G

p.D171G
p.D219G
p.D176G
p.D168G
p.D223G

15.76

-

Fu2022 E
Trost2022 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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