Variant Results

or

Results for "CDH5"

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

CDH5

3-0469-000

chr16:
66403770-66403770

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH5

13896.p1

chr16:
66434654-66434654

C

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

CDH5

12086.p1

chr16:
66434715-66434715

C

T

exonic

De novo

nonsynonymous SNV

NM_001795

c.C1633T

p.R545W

19.21

3.299E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

CDH5

5915

chr16:
66434715-66434715

C

T

exonic

De novo

nonsynonymous SNV

NM_001795

c.C1633T

p.R545W

19.21

3.299E-5

Fu2022 E

CDH5

Uddin2014:29

chr16:
66434715-66434715

C

T

exonic

De novo

nonsynonymous SNV

NM_001795

c.C1633T

p.R545W

19.21

3.299E-5

Uddin2014 E

CDH5

Wang2023:19

chr16:
66424425-66424425

G

A

exonic

De novo

nonsynonymous SNV

NM_001795

c.G901A

p.D301N

20.6

6.594E-5

Wang2023 E

CDH5

SSC09263

chr16:
66434654-66434654

C

T

intronic

De novo

-

Trost2022 G

CDH5

SJD_15.3

chr16:
66422493-66422493

T

G

intronic

De novo

-

Trost2022 G

CDH5

5-5130-004

chr16:
66432698-66432698

G

C

intronic

De novo

-

Trost2022 G

CDH5

1-0628-003

chr16:
66420182-66420182

G

T

intronic

De novo

-

Trost2022 G

CDH5

MR_278

chr16:
66422333-66422333

C

T

exonic

De novo

synonymous SNV

NM_001795

c.C606T

p.I202I

-

1.654E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CDH5

1-0744-003

chr16:
66412259-66412259

G

T

intronic

De novo

-

Yuen2017 G

CDH5

1-0028-003

chr16:
66430292-66430292

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDH5

1-0336-004

chr16:
66434586-66434586

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 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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