Variant Results

or

Results for "CHCHD3"

Variant Events: 43

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

CHCHD3

AU4145301

chr7:
132724986-132724986

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHCHD3

2-0070-003

chr7:
132726793-132726793

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHCHD3

1-0445-003

chr7:
132925488-132925488

G

A

intergenic

De novo

-

Yuen2017 G

CHCHD3

AU2248301

chr7:
132517126-132517126

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHCHD3

155-10-112875

chr7:
132659870-132659870

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CHCHD3

AU1987301

chr7:
132834605-132834605

C

T

intergenic

De novo

-

Yuen2017 G

CHCHD3

1-0203-003

chr7:
132539197-132539197

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHCHD3

A11

chr7:
132639976-132639976

T

TG

intronic

De novo

-

Wu2018 G

CHCHD3

7-0095-004

chr7:
132505244-132505244

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHCHD3

AU015903

chr7:
132871868-132871868

C

T

intergenic

De novo

-

Yuen2017 G

CHCHD3

AU050603

chr7:
132485383-132485383

T

C

intronic

De novo

-

Yuen2017 G

CHCHD3

2-1540-003

chr7:
132530468-132530468

G

C

intronic

De novo

-

Trost2022 G

CHCHD3

MSSNG00397-003

chr7:
132539780-132539780

G

T

intronic

De novo

-

Trost2022 G

CHCHD3

1-0294-003

chr7:
132720542-132720542

A

G

intronic

De novo

-

Yuen2017 G

CHCHD3

1-0404-003

chr7:
132622282-132622282

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHCHD3

1-0294-003

chr7:
132720531-132720531

A

G

intronic

De novo

-

Yuen2017 G

CHCHD3

1-0294-003

chr7:
132720136-132720136

C

T

intronic

De novo

-

Yuen2017 G

CHCHD3

1-0928-003

chr7:
132619823-132619823

C

T

intronic

De novo

-

Trost2022 G

CHCHD3

7-0253-003

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

CHCHD3

2-1688-003

chr7:
132620922-132620922

G

A

intronic

De novo

-

Trost2022 G

CHCHD3

7-0002-003

chr7:
132607089-132607089

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHCHD3

2-1086-003

chr7:
132586690-132586694

GGGTT

AAGG

intronic

De novo

-

Trost2022 G

CHCHD3

3-0539-000

chr7:
132598664-132598664

G

C

intronic

De novo

-

Trost2022 G

CHCHD3

1-0088-003

chr7:
132571374-132571374

A

G

intronic

De novo

-

Trost2022 G

CHCHD3

14496.p1

chr7:
132475414-132475414

C

A

intronic

De novo

-

Turner2016 G

CHCHD3

MSSNG00384-003

chr7:
132578224-132578224

G

A

intronic

De novo

-

Trost2022 G

CHCHD3

MSSNG00363-004

chr7:
132558149-132558149

A

T

intronic

De novo

-

Trost2022 G

CHCHD3

MT_181.4

chr7:
132563076-132563076

C

G

intronic

De novo

-

Trost2022 G

CHCHD3

J4K7A_01

chr7:
132703669-132703669

G

T

intronic

De novo

-

Trost2022 G

CHCHD3

MSSNG00173-003

chr7:
132705986-132705986

T

A

intronic

De novo

-

Trost2022 G

CHCHD3

MSSNG00400-003

chr7:
132688860-132688860

G

A

intronic

De novo

-

Trost2022 G

CHCHD3

H3E8D_01

chr7:
132703669-132703669

G

T

intronic

De novo

-

Trost2022 G

CHCHD3

2-1325-003

chr7:
132720531-132720531

A

G

intronic

De novo

-

Yuen2017 G

CHCHD3

5-0015-003

chr7:
132667944-132667945

AT

GC

intronic

De novo

-

Trost2022 G

CHCHD3

2-1325-003

chr7:
132720136-132720136

C

T

intronic

De novo

-

Yuen2017 G

CHCHD3

5-0015-003

chr7:
132667952-132667952

A

GG

intronic

De novo

-

Trost2022 G

CHCHD3

2-1781-003

chr7:
132630071-132630071

C

T

intronic

De novo

-

Trost2022 G

CHCHD3

5-0015-003

chr7:
132667940-132667940

A

G

intronic

De novo

-

Trost2022 G

CHCHD3

AU3811305

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CHCHD3

AU2433302

chr7:
132761224-132761224

C

T

intronic

De novo

-

Yuen2017 G

CHCHD3

1-1025-003

chr7:
132746244-132746244

C

G

intronic

De novo

-

Trost2022 G

CHCHD3

AU076808

chr7:
132540085-132540085

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CHCHD3

5-0043-003

chr7:
132751130-132751130

T

G

intronic

De novo

-

Trost2022 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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