Variant Results

or

or

Results for "ACTG1"

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

ACTG1

3-0430-000

chr17:
79491237-79491237

A

T

intergenic

De novo

-

-

Yuen2016 G

ACTG1

AU3865301

chr17:
79476427-79476427

A

G

downstream

De novo

-

-

Yuen2017 G

ACTG1

01C05532

chr17:
79479381-79479381

T

A

UTR5

De novo

-

-

Fu2022 E
Satterstrom2020 E

ACTG1

13417.p1

chr17:
79478587-79478587

G

A

exonic

De novo

synonymous SNV

NM_001199954
NM_001614

c.C429T
c.C429T

p.Y143Y
p.Y143Y

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ACTG1

SP0082491

chr17:
79479062-79479062

G

A

exonic

De novo

nonsynonymous SNV

NM_001199954
NM_001614

c.C230T
c.C230T

p.T77I
p.T77I

12.77

-

Fu2022 E

ACTG1

SP0109415

chr17:
79477829-79477829

C

G

exonic

De novo

nonsynonymous SNV

NM_001199954
NM_001614

c.G1015C
c.G1015C

p.V339L
p.V339L

15.48

-

Fu2022 E

ACTG1

2-1261-003

chr17:
79493200-79493200

G

A

intergenic

De novo

-

-

Yuen2017 G

ACTG1

Yamamoto2019:1

chr17:
79478388-79478388

G

C

exonic

De novo

nonsynonymous SNV

NM_001199954
NM_001614

c.C628G
c.C628G

p.R210G
p.R210G

14.58

-

Yamamoto2019 T

ACTG1

SSC07758

chr17:
79478587-79478587

G

A

exonic

De novo

synonymous SNV

NM_001199954
NM_001614

c.C429T
c.C429T

p.Y143Y
p.Y143Y

-

Fu2022 E
Lim2017 E

ACTG1

13874.p1

chr17:
79489997-79489997

C

T

intergenic

De novo

-

-

Turner2016 G

ACTG1

1-0745-003

chr17:
79483578-79483578

G

A

intergenic

De novo

-

-

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
	More