Variant Results

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Results for "CHERP"

Variant Events: 11

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

CHERP

14287.p1

chr19:
16652902-16652912

AAAGCCGGGGG

A

intronic

De novo

-

-

Satterstrom2020 E

CHERP

1-0079-003

chr19:
16651651-16651651

G

GGCGCGGGCCACC

intronic

De novo

-

-

Yuen2017 G

CHERP

JASD_Fam0071

chr19:
16630447-16630447

T

C

exonic

De novo

nonsynonymous SNV

NM_006387

c.A2542G

p.M848V

15.57

-

Takata2018 E

CHERP

JASD_Fam0160

chr19:
16643425-16643425

C

G

exonic

De novo

nonsynonymous SNV

NM_006387

c.G658C

p.D220H

23.9

-

Takata2018 E

CHERP

MT_54.3

chr19:
16643436-16643436

T

C

exonic

nonsynonymous SNV

NM_006387

c.A647G

p.Y216C

23.6

-

Antaki2022 GE

CHERP

2-1341-004

chr19:
16636575-16636575

T

TC

intronic

De novo

-

-

Yuen2017 G

CHERP

SP0077208

chr19:
16630059-16630059

C

T

exonic

De novo

nonsynonymous SNV

NM_006387

c.G2662A

p.V888M

20.5

Fu2022 E

CHERP

SP0082959

chr19:
16632454-16632454

G

A

exonic

De novo

synonymous SNV

NM_006387

c.C1992T

p.H664H

-

Fu2022 E

CHERP

2-0143-004

chr19:
16629578-16629578

A

T

UTR3

De novo

-

-

Yuen2017 G

CHERP

AU3913303

chr19:
16659458-16659458

A

G

intergenic

De novo

-

-

Yuen2017 G

CHERP

SSC05666

chr19:
16652824-16652824

A

G

exonic

De novo

nonsynonymous SNV

NM_006387

c.T56C

p.L19P

26.9

-

Lim2017 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
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