Variant Results

or

or

Results for "GSTCD"

Variant Events: 20

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

GSTCD

2-1275-003

chr4:
106717005-106717005

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GSTCD

AU3649304

chr4:
106729037-106729037

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GSTCD

mAGRE4603

chr4:
106639005-106639005

C

T

exonic

Paternal

stopgain

NM_001031720

c.C235T

p.Q79X

20.4

-

Cirnigliaro2023 G

GSTCD

SP0036458

chr4:
106639055-106639055

A

G

exonic

Mosaic

synonymous SNV

NM_001031720

c.A285G

p.E95E

-

-

Feliciano2019 E

GSTCD

2-1328-003

chr4:
106813277-106813277

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

GSTCD

AU004403

chr4:
106640158-106640158

C

T

intronic

De novo

-

-

Trost2022 G

GSTCD

4-0035-003

chr4:
106699152-106699152

G

T

intronic

De novo

-

-

Trost2022 G

GSTCD

111304

chr4:
106755678-106755678

C

T

exonic

nonsynonymous SNV

NM_001031720
NM_024751

c.C1591T
c.C1330T

p.R531W
p.R444W

20.4

-

Woodbury-Smith2022 E

GSTCD

1-0447-003

chr4:
106660591-106660591

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GSTCD

7-0256-003

chr4:
106643334-106643349

TACACACACACACACA

TACACACACACACA

intronic

De novo

-

-

Yuen2017 G

GSTCD

AU3728301

chr4:
106703353-106703353

A

C

intronic

De novo

-

-

Yuen2017 G

GSTCD

JASD_Fam0233

chr4:
106640339-106640339

T

C

exonic

De novo

synonymous SNV

NM_001031720
NM_024751

c.T549C
c.T288C

p.L183L
p.L96L

-

-

Takata2018 E

GSTCD

2-1579-003

chr4:
106758490-106758490

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GSTCD

2-1620-004

chr4:
106748760-106748760

T

TTTAA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GSTCD

2-0139-003

chr4:
106731603-106731603

C

G

intronic

De novo

-

-

Trost2022 G

GSTCD

MSSNG00398-003

chr4:
106716592-106716592

G

A

intronic

De novo

-

-

Trost2022 G

GSTCD

1-0196-005

chr4:
106782395-106782395

C

A

intergenic

De novo

-

-

Yuen2017 G

GSTCD

REACH000229

chr4:
106718252-106718252

C

T

intronic

De novo

-

-

Trost2022 G

GSTCD

3-0668-000

chr4:
106700889-106700889

T

C

intronic

De novo

-

-

Trost2022 G

GSTCD

MSSNG00385-003

chr4:
106713705-106713705

A

T

intronic

De novo

-

-

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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