Variant Results

or

Results for "CACHD1"

Variant Events: 32

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

CACHD1

10C105879

chr1:
65139072-65139072

T

G

exonic

De novo

nonsynonymous SNV

NM_001293274
NM_020925

c.T1764G
c.T2499G

p.F588L
p.F833L

13.51

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CACHD1

T2T9E-01

chr1:
64963150-64963150

G

C

intronic

De novo

-

Trost2022 G

CACHD1

MSSNG00106-003

chr1:
64970071-64970071

A

C

intronic

De novo

-

Trost2022 G

CACHD1

REACH000209

chr1:
64966433-64966433

G

A

intronic

De novo

-

Trost2022 G

CACHD1

MSSNG00395-003

chr1:
65082472-65082472

G

C

intronic

De novo

-

Trost2022 G

CACHD1

5-1006-003

chr1:
65057219-65057219

T

G

intronic

De novo

-

Trost2022 G

CACHD1

MSSNG00395-003

chr1:
65082475-65082475

C

T

intronic

De novo

-

Trost2022 G

CACHD1

1-0139-005

chr1:
64948244-64948244

A

C

intronic

De novo

-

Yuen2017 G

CACHD1

2-0142-003

chr1:
65082472-65082472

G

C

intronic

De novo

-

Trost2022 G

CACHD1

AU2572301

chr1:
64999521-64999521

C

T

intronic

De novo

-

Trost2022 G

CACHD1

4-0046-003

chr1:
64993861-64993863

CAT

C

intronic

De novo

-

Trost2022 G

CACHD1

MSSNG00360-004

chr1:
65041022-65041022

A

G

intronic

De novo

-

Trost2022 G

CACHD1

MSSNG00369-003

chr1:
65035304-65035304

C

T

intronic

De novo

-

Trost2022 G

CACHD1

5-1012-004

chr1:
65140637-65140637

A

T

intronic

De novo

-

Trost2022 G

CACHD1

MSSNG00409-003

chr1:
65129253-65129253

A

G

intronic

De novo

-

Trost2022 G

CACHD1

SP0206947

chr1:
65143915-65143915

T

C

exonic

De novo

nonsynonymous SNV

NM_001293274
NM_020925

c.T2278C
c.T3013C

p.Y760H
p.Y1005H

27.9

-

Trost2022 G

CACHD1

1-0973-003

chr1:
64936333-64936333

C

G

upstream

De novo

-

Trost2022 G
Yuen2017 G

CACHD1

2-0142-003

chr1:
65082478-65082506

TAAGGTCATCTAAGAGTGAAAGGAAGCCA

T

intronic

De novo

-

Trost2022 G

CACHD1

AU076704

chr1:
65156065-65156065

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACHD1

2-0142-003

chr1:
65082475-65082475

C

T

intronic

De novo

-

Trost2022 G

CACHD1

SP0148185

chr1:
65099716-65099716

C

A

intronic

De novo

-

Trost2022 G

CACHD1

AU2186301

chr1:
65085678-65085678

A

G

intronic

De novo

-

Trost2022 G

CACHD1

13515.p1

chr1:
64936174-64936174

C

G

upstream

De novo

-

Turner2016 G

CACHD1

2-0018-004

chr1:
65128672-65128672

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACHD1

14370.p1

chr1:
65138734-65138734

A

T

intronic

De novo

-

Turner2016 G

CACHD1

1-0373-003

chr1:
64939942-64939942

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACHD1

2-1066-003

chr1:
65068874-65068874

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACHD1

2-1485-003

chr1:
65183531-65183531

G

A

intergenic

De novo

-

Yuen2017 G

CACHD1

7-0419-003

chr1:
65117900-65117900

G

T

exonic

De novo

nonsynonymous SNV

NM_001293274
NM_020925

c.G559T
c.G1294T

p.V187L
p.V432L

28.5

-

Trost2022 G
Zhou2022 GE

CACHD1

2-1485-004

chr1:
65183531-65183531

G

A

intergenic

De novo

-

Yuen2017 G

CACHD1

2-0286-003

chr1:
64970094-64970094

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CACHD1

2-1182-003

chr1:
65154142-65154142

C

T

intronic

De novo

-

Yuen2016 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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