Variant Results

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or

Results for "C2CD4B"

Variant Events: 14

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

C2CD4B

1-0394-003

chr15:
62463979-62463979

A

G

intergenic

De novo

-

-

Yuen2017 G

C2CD4B

2-0012-004

chr15:
62576276-62576276

T

C

intergenic

De novo

-

-

Yuen2017 G

C2CD4B

2-1506-003

chr15:
62455624-62455624

T

C

downstream

De novo

-

-

Trost2022 G
Yuen2017 G

C2CD4B

mAGRE6091

chr15:
62456906-62456906

C

CG

exonic

Maternal

frameshift insertion

NM_001007595

c.277dupC

p.R93fs

-

Cirnigliaro2023 G

C2CD4B

mAGRE6089

chr15:
62456906-62456906

C

CG

exonic

Maternal

frameshift insertion

NM_001007595

c.277dupC

p.R93fs

-

Cirnigliaro2023 G

C2CD4B

mAGRE2827

chr15:
62456396-62456397

CG

C

exonic

Paternal

frameshift deletion

NM_001007595

c.787delC

p.R263fs

-

-

Cirnigliaro2023 G

C2CD4B

mAGRE4594

chr15:
62456191-62456191

G

GC

exonic

Maternal

frameshift insertion

NM_001007595

c.992dupG

p.R331fs

-

Cirnigliaro2023 G

C2CD4B

iHART2827

chr15:
62456396-62456397

CG

C

exonic

Paternal

frameshift deletion

NM_001007595

c.787delC

p.R263fs

-

-

Ruzzo2019 G

C2CD4B

12035.p1

chr15:
62456532-62456532

G

A

exonic

nonsynonymous SNV

NM_001007595

c.C652T

p.P218S

9.249

-

Zhou2022 GE

C2CD4B

1-0010-003

chr15:
62513440-62513440

A

T

intergenic

De novo

-

-

Yuen2017 G

C2CD4B

13515.p1

chr15:
62541067-62541067

T

C

intergenic

De novo

-

-

Turner2016 G

C2CD4B

PN400137

chr15:
62456206-62456206

T

C

exonic

De novo

synonymous SNV

NM_001007595

c.A978G

p.E326E

-

-

Leblond2019 E

C2CD4B

2-1129-003

chr15:
62518315-62518315

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

C2CD4B

PN400137

chr15:
62456227-62456227

A

G

exonic

De novo

synonymous SNV

NM_001007595

c.T957C

p.F319F

-

Leblond2019 E

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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