Variant Results

or

or

Results for "CROCC"

Variant Events: 15

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

CROCC

AU3692301

chr1:
17277584-17277584

C

T

exonic

De novo

synonymous SNV

NM_014675

c.C2973T

p.H991H

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

CROCC

12325.p1

chr1:
17263235-17263235

G

A

exonic

De novo

nonsynonymous SNV

NM_014675

c.G1060A

p.E354K

0.956

Iossifov2014 E
Kosmicki2017 E
Zhou2022 GE

CROCC

SP0049954

chr1:
17297871-17297871

G

A

intronic

De novo

-

-

Fu2022 E

CROCC

MSSNG00029-004

chr1:
17292743-17292743

C

T

intronic

De novo

-

-

Trost2022 G

CROCC

1-0986-003

chr1:
17284427-17284427

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CROCC

AU2458302

chr1:
17258404-17258404

G

A

intronic

De novo

-

-

Yuen2017 G

CROCC

SP0007188

chr1:
17299074-17299074

G

T

UTR3

De novo

-

-

Fu2022 E

CROCC

SP0089780

chr1:
17248515-17248515

T

G

exonic

De novo

nonsynonymous SNV

NM_014675

c.T2G

p.M1R

14.96

-

Fu2022 E

CROCC

SP0032771

chr1:
17264959-17264959

C

G

exonic

De novo

nonsynonymous SNV

NM_014675

c.C1355G

p.T452S

14.72

Fu2022 E
Trost2022 G

CROCC

SP0085284

chr1:
17277565-17277565

G

A

exonic

De novo

nonsynonymous SNV

NM_014675

c.G2954A

p.R985Q

19.55

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CROCC

JASD_Fam0207

chr1:
17272061-17272061

T

C

exonic

De novo

nonsynonymous SNV

NM_014675

c.T2096C

p.L699P

9.942

-

Takata2018 E

CROCC

11046.p1

chr1:
17248530-17248530

C

T

exonic

nonsynonymous SNV

NM_014675

c.C17T

p.A6V

11.75

Zhou2022 GE

CROCC

SP0079081

chr1:
17270706-17270706

G

A

exonic

synonymous SNV

NM_014675

c.G1920A

p.R640R

-

-

Zhou2022 GE

CROCC

12031.p1

chr1:
17256457-17256457

G

A

exonic

synonymous SNV

NM_014675

c.G468A

p.R156R

-

-

Zhou2022 GE

CROCC

NDAR_INVPC670BF4_wes1

chr1:
17250836-17250836

A

G

exonic

De novo

synonymous SNV

NM_014675

c.A213G

p.T71T

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 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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