Variant Results

or

Results for "RALGAPA1"

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

RALGAPA1

SP0045624

chr14:
36064906-36064906

T

A

exonic

De novo

synonymous SNV

NM_014990
NM_194301
NM_001283043
NM_001283044

c.A5625T
c.A5625T
c.A5664T
c.A5766T

p.T1875T
p.T1875T
p.T1888T
p.T1922T

9.189

-

Fu2022 E

RALGAPA1

mAGRE4427

chr14:
36207813-36207813

C

T

exonic

Maternal

stopgain

NM_001283043
NM_001283044
NM_014990
NM_194301

c.G1493A
c.G1493A
c.G1493A
c.G1493A

p.W498X
p.W498X
p.W498X
p.W498X

42.0

-

Cirnigliaro2023 G

RALGAPA1

SP0078621

chr14:
36159183-36159183

G

A

exonic

De novo

nonsynonymous SNV

NM_001283043
NM_014990
NM_194301
NM_001283044

c.C2293T
c.C2293T
c.C2293T
c.C2434T

p.R765C
p.R765C
p.R765C
p.R812C

17.5

6.659E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

RALGAPA1

mAGRE4218

chr14:
36154147-36154147

G

A

exonic

Maternal

stopgain

NM_014990
NM_194301
NM_001283043
NM_001283044

c.C2764T
c.C2764T
c.C2803T
c.C2905T

p.R922X
p.R922X
p.R935X
p.R969X

45.0

-

Cirnigliaro2023 G

RALGAPA1

1-0292-005

chr14:
36280027-36280027

T

G

intergenic

De novo

-

Yuen2017 G

RALGAPA1

SP0112387

chr14:
36230134-36230134

T

A

exonic

De novo

nonsynonymous SNV

NM_001283043
NM_001283044
NM_014990
NM_194301

c.A448T
c.A448T
c.A448T
c.A448T

p.M150L
p.M150L
p.M150L
p.M150L

17.01

-

Fu2022 E
Zhou2022 GE

RALGAPA1

SP0056750

chr14:
36217868-36217868

T

G

exonic

De novo

nonsynonymous SNV

NM_001283043
NM_001283044
NM_014990
NM_194301

c.A1174C
c.A1174C
c.A1174C
c.A1174C

p.T392P
p.T392P
p.T392P
p.T392P

22.0

-

Fu2022 E

RALGAPA1

SMHC01239s000

chr14:
36128342-36128343

AC

A

splicing

De novo

splicing

-

Yuan2023 E

RALGAPA1

14617_p1

chr14:
36096327-36096330

TAAG

T

exonic

De novo

nonframeshift deletion

NM_014990
NM_194301
NM_001283043
NM_001283044

c.5305_5307del
c.5305_5307del
c.5344_5346del
c.5446_5448del

p.1769_1769del
p.1769_1769del
p.1782_1782del
p.1816_1816del

-

Fu2022 E

RALGAPA1

NDAR_INVYC885VDZ_wes1

chr14:
36133921-36133921

T

G

exonic

De novo

nonsynonymous SNV

NM_014990
NM_194301
NM_001283043
NM_001283044

c.A3737C
c.A3737C
c.A3776C
c.A3878C

p.N1246T
p.N1246T
p.N1259T
p.N1293T

25.5

-

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

RALGAPA1

AU3984301

chr14:
36285869-36285869

C

T

intergenic

De novo

-

Yuen2017 G

RALGAPA1

14617.p1

chr14:
36096327-36096330

TAAG

T

exonic

De novo

nonframeshift deletion

NM_014990
NM_194301
NM_001283043
NM_001283044

c.5305_5307del
c.5305_5307del
c.5344_5346del
c.5446_5448del

p.1769_1769del
p.1769_1769del
p.1782_1782del
p.1816_1816del

-

Iossifov2014 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

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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