Variant Results

or

or

Results for "CDH26"

Variant Events: 12

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

CDH26

AU072005

chr20:
58579466-58579466

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDH26

AU2463301

chr20:
58545738-58545738

G

A

intronic

De novo

-

-

Trost2022 G

CDH26

SP0217904

chr20:
58533772-58533772

G

T

UTR5

De novo

-

-

Trost2022 G

CDH26

mAGRE4927

chr20:
58606439-58606439

C

T

intergenic

Maternal

12.43

Cirnigliaro2023 G

CDH26

mAGRE4698

chr20:
58569543-58569543

G

A

exonic

Paternal

stopgain

NM_177980

c.G1665A

p.W555X

19.43

Cirnigliaro2023 G

CDH26

mAGRE4697

chr20:
58569543-58569543

G

A

exonic

Paternal

stopgain

NM_177980

c.G1665A

p.W555X

19.43

Cirnigliaro2023 G

CDH26

mAGRE5504

chr20:
58562565-58562565

C

T

exonic

Maternal

stopgain

NM_177980

c.C895T

p.Q299X

36.0

Cirnigliaro2023 G

CDH26

mAGRE2687

chr20:
58559834-58559834

C

T

exonic

Paternal

stopgain

NM_177980

c.C682T

p.R228X

19.03

Cirnigliaro2023 G

CDH26

C239603

chr20:
58569348-58569348

G

A

exonic

De novo

synonymous SNV

NM_177980

c.G1470A

p.L490L

8.605

-

Fu2022 E

CDH26

AU2139301

chr20:
58591449-58591449

C

T

intergenic

De novo

-

-

Yuen2017 G

CDH26

Cukier2014:17122

chr20:
58559852-58559852

G

T

exonic

Unknown

nonsynonymous SNV

NM_177980

c.G700T

p.D234Y

12.78

Cukier2014 E

CDH26

iHART2687

chr20:
58559834-58559834

C

T

exonic

Paternal

stopgain

NM_177980

c.C682T

p.R228X

19.03

Ruzzo2019 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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