Variant Results

or

Results for "CDH19"

Variant Events: 36

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

CDH19

iHART1412

chr18:
64172288-64172289

TG

T

exonic

Maternal

frameshift deletion

NM_021153

c.2079delC

p.A693fs

-

Ruzzo2019 G

CDH19

iHART3013

chr18:
64212009-64212013

ATGTT

A

exonic

Paternal

frameshift deletion

NM_001271028
NM_021153

c.903_906del
c.903_906del

p.Q301fs
p.Q301fs

-

Ruzzo2019 G

CDH19

iHART3014

chr18:
64212009-64212013

ATGTT

A

exonic

Paternal

frameshift deletion

NM_001271028
NM_021153

c.903_906del
c.903_906del

p.Q301fs
p.Q301fs

-

Ruzzo2019 G

CDH19

5-0110-003

chr18:
64582306-64582306

C

T

intergenic

De novo

-

Yuen2017 G

CDH19

AU017704

chr18:
64462550-64462550

T

C

intergenic

De novo

-

Yuen2017 G

CDH19

AU3807302

chr18:
64306725-64306725

A

G

intergenic

De novo

-

Yuen2017 G

CDH19

2-1093-005

chr18:
64277708-64277708

G

A

intergenic

De novo

-

Yuen2017 G

CDH19

AU060703

chr18:
64390194-64390194

C

A

intergenic

De novo

-

Yuen2017 G

CDH19

1-0484-003

chr18:
64712929-64712929

G

A

intergenic

De novo

-

Yuen2017 G

CDH19

iHART2390

chr18:
64239362-64239364

TGA

T

exonic

Paternal

frameshift deletion

NM_001271028
NM_021153

c.78_79del
c.78_79del

p.S26fs
p.S26fs

-

Ruzzo2019 G

CDH19

2-1094-004

chr18:
64667693-64667693

T

C

intergenic

De novo

-

Yuen2017 G

CDH19

5-0111-003

chr18:
64368494-64368494

A

C

intergenic

De novo

-

Yuen2017 G

CDH19

AU034904

chr18:
64404099-64404099

G

A

intergenic

De novo

-

Yuen2017 G

CDH19

2-1459-003

chr18:
64395246-64395246

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH19

2-1626-003

chr18:
64239561-64239561

G

C

intronic

De novo

-

Yuen2017 G

CDH19

AU076508

chr18:
64302529-64302529

T

G

intergenic

De novo

-

Yuen2017 G

CDH19

AU4473301

chr18:
64460970-64460970

T

C

intergenic

De novo

-

Yuen2017 G

CDH19

12449.p1

chr18:
64333973-64333973

T

C

intergenic

De novo

-

Turner2016 G

CDH19

1-0985-003

chr18:
64295787-64295787

C

T

intergenic

De novo

-

Yuen2017 G

CDH19

13393.p1

chr18:
64503879-64503879

C

T

intergenic

De novo

-

Turner2016 G

CDH19

AU4211304

chr18:
64519842-64519842

C

T

intergenic

De novo

-

Yuen2017 G

CDH19

2-0057-004

chr18:
64426355-64426355

A

G

intergenic

De novo

-

Yuen2017 G

CDH19

A18

chr18:
64283645-64283645

G

A

intergenic

De novo

-

Wu2018 G

CDH19

1-0494-003A

chr18:
64228761-64228761

A

T

intronic

De novo

-

Yuen2017 G

CDH19

5-0095-003

chr18:
64172818-64172818

A

G

intronic

De novo

-

Yuen2017 G

CDH19

5-0114-003

chr18:
64212985-64212985

C

T

intronic

De novo

-

Yuen2017 G

CDH19

09C95083

chr18:
64199907-64199907

C

T

intronic

De novo

-

Satterstrom2020 E

CDH19

AU047904

chr18:
64205703-64205703

A

G

intronic

De novo

-

Yuen2017 G

CDH19

1-0161-003

chr18:
64230385-64230385

G

A

intronic

De novo

-

Yuen2017 G

CDH19

7-0183-003

chr18:
64600773-64600773

T

A

intergenic

De novo

-

Yuen2017 G

CDH19

AU3632301

chr18:
64259065-64259065

A

G

intronic

De novo

-

Yuen2017 G

CDH19

AU1795301

chr18:
64695443-64695443

T

C

intergenic

De novo

-

Yuen2017 G

CDH19

AU2139301

chr18:
64663043-64663044

AT

A

intergenic

De novo

-

Yuen2017 G

CDH19

5-0018-003

chr18:
64337981-64337981

A

G

intergenic

De novo

-

Yuen2017 G

CDH19

2-1508-004

chr18:
64430714-64430714

G

C

intergenic

De novo

-

Yuen2017 G

CDH19

1-0494-003

chr18:
64228761-64228761

A

T

intronic

De novo

-

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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