Variant Results

or

or

Results for "FCHSD2"

Variant Events: 25

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

FCHSD2

7-0095-003

chr11:
72822414-72822418

CTTCT

C

intronic

De novo

-

-

Yuen2017 G

FCHSD2

SP0085402

chr11:
72553913-72553913

G

A

intronic

De novo

-

-

Fu2022 E

FCHSD2

1-0160-004

chr11:
72676430-72676430

G

C

intronic

De novo

-

-

Yuen2017 G

FCHSD2

1-0160-004

chr11:
72565159-72565159

T

A

intronic

De novo

-

-

Yuen2017 G

FCHSD2

1-0745-003

chr11:
72643052-72643052

T

G

intronic

De novo

-

-

Yuen2017 G

FCHSD2

2-0127-004

chr11:
72778930-72778930

T

C

intronic

De novo

-

-

Yuen2017 G

FCHSD2

7-0024-005

chr11:
72722229-72722229

G

A

intronic

De novo

-

-

Yuen2017 G

FCHSD2

A17

chr11:
72754077-72754077

A

C

intronic

De novo

-

-

Wu2018 G

FCHSD2

14093.p1

chr11:
72598608-72598608

A

C

exonic

Mosaic

nonsynonymous SNV

NM_014824

c.T1053G

p.D351E

2.661

-

Krupp2017 E

FCHSD2

1-0338-005

chr11:
72571011-72571011

T

A

intronic

De novo

-

-

Yuen2017 G

FCHSD2

08C78789

chr11:
72712179-72712179

C

A

exonic

De novo

nonsynonymous SNV

NM_014824

c.G243T

p.R81S

32.0

-

Fu2022 E

FCHSD2

9190755

chr11:
72695268-72695268

C

T

intronic

De novo

-

-

Fu2022 E

FCHSD2

AU4496301

chr11:
72880395-72880395

G

A

intergenic

De novo

-

-

Yuen2017 G

FCHSD2

7-0223-003

chr11:
72668317-72668317

G

A

intronic

De novo

-

-

Yuen2017 G

FCHSD2

1-0559-004

chr11:
72905954-72905954

C

T

intergenic

De novo

-

-

Yuen2017 G

FCHSD2

1-0049-004

chr11:
72614407-72614407

G

A

intronic

De novo

-

-

Yuen2017 G

FCHSD2

7-0100-004

chr11:
72622214-72622214

T

C

intronic

De novo

-

-

Yuen2017 G

FCHSD2

2-1290-003

chr11:
72792647-72792647

C

T

intronic

De novo

-

-

Yuen2017 G

FCHSD2

AU3635301

chr11:
72586934-72586934

G

T

intronic

De novo

-

-

Yuen2017 G

FCHSD2

Lim2017:31783

chr11:
72598608-72598608

A

C

exonic

Mosaic

nonsynonymous SNV

NM_014824

c.T1053G

p.D351E

2.661

-

Lim2017 E

FCHSD2

1-0265-003

chr11:
72756546-72756546

G

A

intronic

De novo

-

-

Yuen2017 G

FCHSD2

1-0826-004

chr11:
72699279-72699279

C

T

intronic

De novo

-

-

Yuen2017 G

FCHSD2

AU3907302

chr11:
72856427-72856427

C

T

intergenic

De novo

-

-

Yuen2017 G

FCHSD2

2-0158-003

chr11:
72769039-72769039

C

G

intronic

De novo

-

-

Yuen2017 G

FCHSD2

NDAR_INVWP471YM8_wes1

chr11:
72700034-72700034

G

A

exonic

stopgain

NM_014824

c.C496T

p.R166X

36.0

-

Doan2019 E

Source Variant Information

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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
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