Variant Results

or

or

Results for "RALGAPA2"

Variant Events: 73

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

RALGAPA2

1-0547-003

chr20:
21022426-21022426

C

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

AU4032306

chr20:
20810083-20810083

A

G

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

AU4269301

chr20:
20948165-20948165

A

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

iHART2451

chr20:
20585828-20585828

G

A

exonic

Maternal

stopgain

NM_020343

c.C2029T

p.R677X

42.0

Ruzzo2019 G

RALGAPA2

iHART3156

chr20:
20493285-20493287

CTG

C

exonic

Paternal

frameshift deletion

NM_020343

c.4726_4727del

p.Q1576fs

-

Ruzzo2019 G

RALGAPA2

iHART1825

chr20:
20610045-20610045

G

A

exonic

Paternal

stopgain

NM_020343

c.C1195T

p.R399X

24.5

-

Ruzzo2019 G

RALGAPA2

iHART2049

chr20:
20392688-20392688

T

TAGCTGGGAGAGGGAGAAAAGACTTG

exonic

Paternal

frameshift insertion

NM_020343

c.5599_5600insCAAGTCTTTTCTCCCTCTCCCAGCT

p.Y1867fs

-

-

Ruzzo2019 G

RALGAPA2

1-0025-004

chr20:
21014945-21014945

G

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

iHART3155

chr20:
20493285-20493287

CTG

C

exonic

Paternal

frameshift deletion

NM_020343

c.4726_4727del

p.Q1576fs

-

Ruzzo2019 G

RALGAPA2

iHART2051

chr20:
20392688-20392688

T

TAGCTGGGAGAGGGAGAAAAGACTTG

exonic

Paternal

frameshift insertion

NM_020343

c.5599_5600insCAAGTCTTTTCTCCCTCTCCCAGCT

p.Y1867fs

-

-

Ruzzo2019 G

RALGAPA2

2-1163-003

chr20:
20976470-20976470

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RALGAPA2

2-0300-004

chr20:
20444178-20444178

A

T

intronic

De novo

-

-

Yuen2017 G

RALGAPA2

2-1231-003

chr20:
20988930-20988930

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RALGAPA2

AU4223302

chr20:
20844670-20844670

C

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

mAGRE1825

chr20:
20610045-20610045

G

A

exonic

Paternal

stopgain

NM_020343

c.C1195T

p.R399X

24.5

-

Cirnigliaro2023 G

RALGAPA2

5-0074-003

chr20:
20967306-20967306

G

A

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

mAGRE2451

chr20:
20585828-20585828

G

A

exonic

Maternal

stopgain

NM_020343

c.C2029T

p.R677X

42.0

Cirnigliaro2023 G

RALGAPA2

AU4347301

chr20:
20607109-20607109

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RALGAPA2

AU3716302

chr20:
20493285-20493287

CTG

C

exonic

Paternal

frameshift deletion

NM_020343

c.4726_4727del

p.Q1576fs

-

Cirnigliaro2023 G

RALGAPA2

1-0534-003

chr20:
20716106-20716106

A

G

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

AU3716301

chr20:
20493285-20493287

CTG

C

exonic

Paternal

frameshift deletion

NM_020343

c.4726_4727del

p.Q1576fs

-

Cirnigliaro2023 G

RALGAPA2

mAGRE2051

chr20:
20392688-20392688

T

TAGCTGGGAGAGGGAGAAAAGACTTG

exonic

Paternal

frameshift insertion

NM_020343

c.5599_5600insCAAGTCTTTTCTCCCTCTCCCAGCT

p.Y1867fs

-

-

Cirnigliaro2023 G

RALGAPA2

2-1350-003

chr20:
20944644-20944644

T

C

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

AU061104

chr20:
20587811-20587811

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RALGAPA2

AU3915301

chr20:
20884878-20884878

G

A

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

mAGRE2049

chr20:
20392688-20392688

T

TAGCTGGGAGAGGGAGAAAAGACTTG

exonic

Paternal

frameshift insertion

NM_020343

c.5599_5600insCAAGTCTTTTCTCCCTCTCCCAGCT

p.Y1867fs

-

-

Cirnigliaro2023 G

RALGAPA2

2-1455-003

chr20:
20757337-20757337

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

RALGAPA2

1-0224-004

chr20:
20532177-20532177

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RALGAPA2

2-1526-004

chr20:
20415670-20415670

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RALGAPA2

AU4159302

chr20:
20900426-20900426

C

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

mAGRE4511

chr20:
20621519-20621519

T

A

exonic

Maternal

stopgain

NM_020343

c.A376T

p.R126X

38.0

-

Cirnigliaro2023 G

RALGAPA2

AU1725306

chr20:
20443135-20443135

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RALGAPA2

111297

chr20:
20586055-20586055

G

A

exonic

nonsynonymous SNV

NM_020343

c.C1802T

p.T601M

21.1

Woodbury-Smith2022 E

RALGAPA2

1-0454-003

chr20:
20858933-20858933

C

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

2-1089-004

chr20:
20445736-20445736

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RALGAPA2

1-0736-003

chr20:
20794917-20794917

G

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

2-1220-003

chr20:
20918370-20918375

GAGAAG

GAGAAGAAG

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

AU3680302

chr20:
20976880-20976880

G

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

2-1425-004

chr20:
21022671-21022671

T

C

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

2-1314-003

chr20:
20927068-20927068

G

A

intergenic

De novo

-

-

Yuen2016 G

RALGAPA2

5-0042-003

chr20:
20665873-20665873

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RALGAPA2

7-0100-003

chr20:
20573815-20573815

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RALGAPA2

2-0016-003

chr20:
21078415-21078415

C

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

AU4429301

chr20:
20412196-20412196

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RALGAPA2

1-0323-004

chr20:
20866880-20866880

G

C

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

2-1306-004

chr20:
20904897-20904897

G

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

MCD-028-3

chr20:
20493587-20493587

C

A

exonic

Paternal

nonsynonymous SNV

NM_020343

c.G4426T

p.V1476F

12.44

-

Tuncay2023 G

RALGAPA2

AU2863303

chr20:
20769711-20769711

C

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

AU4228301

chr20:
20750467-20750467

C

G

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

MCD-028-3

chr20:
20552253-20552253

G

A

exonic

Maternal

nonsynonymous SNV

NM_020343

c.C3005T

p.A1002V

13.78

-

Tuncay2023 G

RALGAPA2

MSSNG00346-004

chr20:
20473282-20473282

A

G

intronic

De novo

-

-

Trost2022 G

RALGAPA2

REACH000409

chr20:
20460788-20460788

C

T

intronic

De novo

-

-

Trost2022 G

RALGAPA2

2-0036-003

chr20:
21078415-21078415

C

T

intergenic

De novo

-

-

Yuen2016 G

RALGAPA2

MSSNG00349-004

chr20:
20439043-20439048

CATATA

C

intronic

De novo

-

-

Trost2022 G

RALGAPA2

7-0501-003

chr20:
20393297-20393297

C

A

intronic

De novo

-

-

Trost2022 G

RALGAPA2

MSSNG00369-003

chr20:
20579897-20579897

C

T

intronic

De novo

-

-

Trost2022 G

RALGAPA2

1-1121-003

chr20:
20570713-20570713

C

T

intronic

De novo

-

-

Trost2022 G

RALGAPA2

3-0262-000

chr20:
20554539-20554539

C

T

intronic

De novo

-

-

Trost2022 G

RALGAPA2

2-1306-003

chr20:
20904897-20904897

G

T

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

SP0147509

chr20:
20553741-20553741

T

C

intronic

De novo

-

-

Trost2022 G

RALGAPA2

MSSNG00360-003

chr20:
20540450-20540450

G

A

intronic

De novo

-

-

Trost2022 G

RALGAPA2

MSSNG00032-004

chr20:
20504305-20504305

A

T

intronic

De novo

-

-

Trost2022 G

RALGAPA2

MSSNG00344-003

chr20:
20498021-20498021

T

G

intronic

De novo

-

-

Trost2022 G

RALGAPA2

AU2320301

chr20:
20492732-20492732

T

C

intronic

De novo

-

-

Trost2022 G

RALGAPA2

MSSNG00370-003

chr20:
20681013-20681013

A

G

intronic

De novo

-

-

Trost2022 G

RALGAPA2

MSSNG00370-003

chr20:
20681003-20681003

C

G

intronic

De novo

-

-

Trost2022 G

RALGAPA2

SP0218984

chr20:
20661299-20661299

G

C

intronic

De novo

-

-

Trost2022 G

RALGAPA2

2-1322-003

chr20:
21010366-21010366

G

A

intergenic

De novo

-

-

Yuen2017 G

RALGAPA2

MSSNG00116-003

chr20:
20650571-20650571

G

A

intronic

De novo

-

-

Trost2022 G

RALGAPA2

7-0365-003

chr20:
20623000-20623000

G

A

intronic

De novo

-

-

Trost2022 G

RALGAPA2

REACH000380

chr20:
20619734-20619734

T

C

intronic

De novo

-

-

Trost2022 G

RALGAPA2

7-0483-003

chr20:
20608605-20608605

T

A

intronic

De novo

-

-

Trost2022 G

RALGAPA2

MT_192.3

chr20:
20598196-20598196

C

T

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
	More