Variant Results

or

or

Results for "NSMAF"

Variant Events: 24

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

NSMAF

AU050403

chr8:
59527566-59527566

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NSMAF

mAGRE5212

chr8:
59520327-59520327

C

A

splicing

Maternal

splicing

16.95

-

Cirnigliaro2023 G

NSMAF

mAGRE5211

chr8:
59520327-59520327

C

A

splicing

Maternal

splicing

16.95

-

Cirnigliaro2023 G

NSMAF

2-0070-004

chr8:
59625764-59625764

G

T

intergenic

De novo

-

-

Yuen2017 G

NSMAF

1-0447-003

chr8:
59642665-59642665

C

T

intergenic

De novo

-

-

Yuen2017 G

NSMAF

1-0395-003

chr8:
59604220-59604220

C

T

intergenic

De novo

-

-

Yuen2017 G

NSMAF

AU050704

chr8:
59628116-59628116

T

C

intergenic

De novo

-

-

Yuen2017 G

NSMAF

AU071204

chr8:
59629377-59629377

T

C

intergenic

De novo

-

-

Yuen2017 G

NSMAF

1-0906-003

chr8:
59613003-59613003

G

A

intergenic

De novo

-

-

Yuen2017 G

NSMAF

12336.p1

chr8:
59571839-59571839

G

C

exonic

nonsynonymous SNV

NM_001144772

c.C67G

p.R23G

14.58

-

Zhou2022 GE

NSMAF

MSSNG00376-003

chr8:
59504946-59504946

G

C

intronic

De novo

-

-

Trost2022 G

NSMAF

3-0114-000

chr8:
59514579-59514579

G

C

intronic

De novo

-

-

Trost2022 G

NSMAF

MSSNG00013-004

chr8:
59495544-59495544

G

A

downstream

De novo

-

-

Trost2022 G
Trost2022 G

NSMAF

REACH000319

chr8:
59497340-59497340

C

T

intronic

De novo

-

-

Trost2022 G

NSMAF

1-0533-003

chr8:
59662620-59662620

A

G

intergenic

De novo

-

-

Yuen2017 G

NSMAF

111289

chr8:
59536269-59536269

T

G

exonic

nonsynonymous SNV

NM_001144772
NM_003580

c.A548C
c.A455C

p.Q183P
p.Q152P

23.4

Woodbury-Smith2022 E

NSMAF

1-0044-003

chr8:
59627875-59627875

G

C

intergenic

De novo

-

-

Yuen2017 G

NSMAF

AU3720302

chr8:
59637742-59637742

C

T

intergenic

De novo

-

-

Yuen2017 G

NSMAF

2-1526-003

chr8:
59527060-59527060

T

A

intronic

De novo

-

-

Yuen2017 G

NSMAF

08C73043

chr8:
59514596-59514596

A

G

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

NSMAF

Wang2023:285

chr8:
59509982-59509982

T

C

exonic

De novo

nonsynonymous SNV

NM_001144772
NM_003580

c.A1849G
c.A1756G

p.T617A
p.T586A

10.3

-

Wang2023 E

NSMAF

7-0024-003

chr8:
59527060-59527060

T

A

intronic

De novo

-

-

Yuen2017 G

NSMAF

5-0015-004

chr8:
59540788-59540788

A

G

intronic

De novo

-

-

Trost2022 G

NSMAF

1-0395-004

chr8:
59604220-59604220

C

T

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
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