Variant Results

or

Results for "CYHR1"

Variant Events: 23

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

CYHR1

PN400330

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

PN400332

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

PN400170

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

AU055004

chr8:
145690529-145690529

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CYHR1

PN400474

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

1-0339-004

chr8:
145683378-145683378

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CYHR1

1-1230-003

chr8:
145688183-145688183

C

T

intronic

De novo

-

Trost2022 G

CYHR1

AU4467302

chr8:
145683629-145683629

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CYHR1

11893.p1

chr8:
145677925-145677925

C

T

exonic

Mosaic

nonsynonymous SNV

NM_138496

c.G514A

p.G172S

36.0

-

Krupp2017 E

CYHR1

5-5027-003

chr8:
145677387-145677387

C

G

intronic

De novo

-

Trost2022 G

CYHR1

2-1579-003

chr8:
145680354-145680354

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CYHR1

1-1129-003

chr8:
145684642-145684642

G

A

intronic

De novo

-

Trost2022 G

CYHR1

PN400559

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

PN400546

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

PN400484

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

PN400562

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

PN400361

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

PN400416

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

PN400548

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

1-0563-004

chr8:
145682365-145682365

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CYHR1

PN400108

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

PN400262

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

Leblond2019 E

CYHR1

PN400534

chr8:
145689658-145689658

G

GC

exonic

Unknown

frameshift insertion

NM_001129888
NM_032687

c.430dupG
c.430dupG

p.A144fs
p.A144fs

-

0.0044

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
	More