Variant Results

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Results for "ACSM3"

Variant Events: 12

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

ACSM3

AU050A

chr16:
20781580-20781580

G

A

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ACSM3

SP0122761

chr16:
20803644-20803644

C

G

exonic

De novo

nonsynonymous SNV

NM_005622

c.C1541G

p.P514R

19.29

-

Trost2022 G
Trost2022 G

ACSM3

1-0044-003

chr16:
20781361-20781361

T

C

exonic

De novo

nonsynonymous SNV

NM_005622
NM_202000

c.T5C
c.T5C

p.L2P
p.L2P

11.28

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ACSM3

2-0298-003

chr16:
20775550-20775550

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ACSM3

mAGRE5676

chr16:
20803562-20803562

C

T

exonic

Paternal

stopgain

NM_005622

c.C1459T

p.R487X

26.2

Cirnigliaro2023 G

ACSM3

mAGRE5872

chr16:
20803370-20803372

TCA

T

exonic

Paternal

frameshift deletion

NM_005622

c.1374_1375del

p.I458fs

-

Cirnigliaro2023 G

ACSM3

Codina-Sola2015:ASD_31

chr16:
20793081-20793081

C

T

exonic

Paternal

stopgain

NM_005622
NM_202000

c.C991T
c.C991T

p.R331X
p.R331X

25.5

Codina-Sola2015 E

ACSM3

03HI2710A

chr16:
20788913-20788913

A

G

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

ACSM3

SP0144558

chr16:
20803555-20803555

T

A

intronic

De novo

-

-

Trost2022 G
Trost2022 G

ACSM3

SP0012036

chr16:
20802007-20802007

C

A

exonic

De novo

stopgain

NM_005622

c.C1323A

p.Y441X

8.816

-

Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE

ACSM3

Cukier2014:17678

chr16:
20796338-20796338

G

A

exonic

Unknown

nonsynonymous SNV

NM_005622
NM_202000

c.G1052A
c.G1052A

p.S351N
p.S351N

22.0

Cukier2014 E

ACSM3

mAGRE5677

chr16:
20803562-20803562

C

T

exonic

Paternal

stopgain

NM_005622

c.C1459T

p.R487X

26.2

Cirnigliaro2023 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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