Variant Results

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Results for "ACAP3"

Variant Events: 13

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

ACAP3

12687.p1

chr1:
1235195-1235195

G

C

intronic

De novo

-

-

Krumm2015 E

ACAP3

08C78419

chr1:
1242442-1242442

A

G

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

ACAP3

SP0120103

chr1:
1242740-1242740

G

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ACAP3

SP0052332

chr1:
1231765-1231765

A

G

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ACAP3

2-1409-003

chr1:
1235431-1235431

G

A

exonic

De novo

synonymous SNV

NM_030649

c.C585T

p.H195H

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ACAP3

SP0043516

chr1:
1242777-1242777

C

G

intronic

De novo

-

-

Fu2022 E
Trost2022 G

ACAP3

SP0054381

chr1:
1229185-1229185

G

A

intronic

De novo

-

-

Fu2022 E

ACAP3

SP0099824

chr1:
1231620-1231620

G

A

exonic

De novo

synonymous SNV

NM_030649

c.C1378T

p.L460L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ACAP3

3-0422-000

chr1:
1233288-1233288

C

T

exonic

De novo

nonsynonymous SNV

NM_030649

c.G1042A

p.E348K

19.62

-

Trost2022 G
Zhou2022 GE

ACAP3

SP0099824

chr1:
1230851-1230851

C

T

exonic

De novo

nonsynonymous SNV

NM_030649

c.G1789A

p.G597R

16.09

Trost2022 G
Zhou2022 GE

ACAP3

SP0155407

chr1:
1231276-1231276

C

T

exonic

De novo

synonymous SNV

NM_030649

c.G1545A

p.K515K

-

-

Trost2022 G

ACAP3

2-1230-003

chr1:
1242442-1242442

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ACAP3

7-0192-003

chr1:
1229187-1229187

G

C

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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