Variant Results

or

Results for "CDHR3"

Variant Events: 24

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

CDHR3

AU005214

chr7:
105644797-105644797

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDHR3

AU2139305

chr7:
105647297-105647297

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDHR3

2-1094-004

chr7:
105663245-105663245

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDHR3

3-0702-000

chr7:
105663829-105663829

A

G

intronic

De novo

-

Trost2022 G

CDHR3

3-0873-000

chr7:
105605503-105605503

G

C

intronic

De novo

-

Trost2022 G

CDHR3

1-0319-003

chr7:
105648234-105648234

C

T

intronic

De novo

-

Trost2022 G

CDHR3

iHART2635

chr7:
105673125-105673126

AC

A

exonic

Maternal

frameshift deletion

NM_001301161
NM_152750

c.2377delC
c.2641delC

p.P793fs
p.P881fs

-

5.864E-5

Ruzzo2019 G

CDHR3

SSC05918

chr7:
105655655-105655655

T

C

exonic

De novo

synonymous SNV

NM_001301161
NM_152750

c.T1059C
c.T1323C

p.Y353Y
p.Y441Y

-

1.449E-5

Fu2022 E
Trost2022 G

CDHR3

1-0354-006

chr7:
105617960-105617960

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDHR3

SMHC01992s000

chr7:
105653442-105653442

T

G

exonic

De novo

nonsynonymous SNV

NM_001301161
NM_152750

c.T925G
c.T1189G

p.F309V
p.F397V

17.76

-

Yuan2023 E

CDHR3

NDAR_INVCP020ZKM_wes1

chr7:
105644979-105644979

C

T

exonic

stopgain

NM_001301161
NM_152750

c.C634T
c.C898T

p.R212X
p.R300X

34.0

1.0E-4

Doan2019 E

CDHR3

mAGRE2635

chr7:
105673125-105673126

AC

A

exonic

Maternal

frameshift deletion

NM_001301161
NM_152750

c.2377delC
c.2641delC

p.P793fs
p.P881fs

-

5.864E-5

Cirnigliaro2023 G

CDHR3

1-0446-003

chr7:
105680194-105680194

T

C

intergenic

De novo

-

Yuen2017 G

CDHR3

1-0049-004

chr7:
105642056-105642056

T

C

exonic

De novo

synonymous SNV

NM_001301161
NM_152750

c.T598C
c.T862C

p.L200L
p.L288L

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

CDHR3

12796.p1

chr7:
105655655-105655655

T

C

exonic

De novo

synonymous SNV

NM_001301161
NM_152750

c.T1059C
c.T1323C

p.Y353Y
p.Y441Y

-

1.449E-5

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

CDHR3

AU2000302

chr7:
105663108-105663108

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDHR3

09C99930

chr7:
105660995-105660995

A

C

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CDHR3

NDAR_INVLT348DHD_wes1

chr7:
105655556-105655556

G

A

splicing

11.32

6.097E-5

Doan2019 E

CDHR3

3-0438-000

chr7:
105663505-105663505

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G

CDHR3

SP0107567

chr7:
105653462-105653462

C

T

exonic

De novo

synonymous SNV

NM_001301161
NM_152750

c.C945T
c.C1209T

p.G315G
p.G403G

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CDHR3

MSSNG00021-003

chr7:
105668924-105668924

G

A

intronic

De novo

11.27

1.0E-4

Trost2022 G
Zhou2022 GE

CDHR3

1-0393-003

chr7:
105718481-105718481

A

G

intergenic

De novo

-

Yuen2017 G

CDHR3

1-0354-003

chr7:
105617960-105617960

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CDHR3

1-0393-003

chr7:
105663593-105663594

TA

T

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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