Variant Results

or

or

Results for "C8A"

Variant Events: 22

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

C8A

SP0066430

chr1:
57349140-57349140

C

CT

intronic

De novo

-

Trost2022 G

C8A

2-0122-004

chr1:
57391199-57391199

A

G

intergenic

De novo

-

-

Yuen2017 G

C8A

SP0018619

chr1:
57320630-57320630

C

G

exonic

De novo

nonsynonymous SNV

NM_000562

c.C56G

p.T19S

11.05

-

Fu2022 E
Trost2022 G
Zhou2022 GE

C8A

1-0018-004

chr1:
57364720-57364720

G

A

intronic

De novo

-

-

Trost2022 G

C8A

1-0018-004

chr1:
57364680-57364680

C

A

intronic

De novo

-

-

Trost2022 G

C8A

REACH000171

chr1:
57378643-57378643

A

C

intronic

De novo

-

-

Trost2022 G

C8A

REACH000735

chr1:
57355189-57355189

C

T

intronic

De novo

-

-

Trost2022 G

C8A

REACH000144

chr1:
57352435-57352435

A

G

intronic

De novo

-

-

Trost2022 G

C8A

2-1317-003

chr1:
57339519-57339519

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C8A

REACH000454

chr1:
57357487-57357487

T

A

intronic

De novo

-

-

Trost2022 G

C8A

2-1552-003

chr1:
57356184-57356185

TG

AT

intronic

De novo

-

-

Trost2022 G

C8A

12604.p1

chr1:
57347157-57347157

C

T

exonic

Mosaic

synonymous SNV

NM_000562

c.C504T

p.Y168Y

-

Dou2017 E
Krupp2017 E

C8A

mAGRE1520

chr1:
57383266-57383266

C

A

exonic

Paternal

stopgain

NM_000562

c.C1632A

p.C544X

36.0

-

Cirnigliaro2023 G

C8A

mAGRE1518

chr1:
57383266-57383266

C

A

exonic

Paternal

stopgain

NM_000562

c.C1632A

p.C544X

36.0

-

Cirnigliaro2023 G

C8A

iHART1520

chr1:
57383266-57383266

C

A

exonic

Paternal

stopgain

NM_000562

c.C1632A

p.C544X

36.0

-

Ruzzo2019 G

C8A

11194.p1

chr1:
57343835-57343835

C

T

intronic

De novo

-

-

Turner2016 G

C8A

iHART1518

chr1:
57383266-57383266

C

A

exonic

Paternal

stopgain

NM_000562

c.C1632A

p.C544X

36.0

-

Ruzzo2019 G

C8A

1-0448-003

chr1:
57386119-57386119

C

T

intergenic

De novo

-

-

Yuen2017 G

C8A

5-0105-003

chr1:
57357773-57357773

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C8A

1-0445-003

chr1:
57391896-57391896

C

T

intergenic

De novo

-

-

Yuen2017 G

C8A

5-0125-003

chr1:
57336359-57336359

G

A

intronic

De novo

-

-

Yuen2017 G

C8A

MSSNG00356-003

chr1:
57372411-57372411

G

A

exonic

De novo

nonsynonymous SNV

NM_000562

c.G1168A

p.V390I

3.955

-

Trost2022 G
Zhou2022 GE

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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