Variant Results

or

Results for "RASGRF1"

Variant Events: 26

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

RASGRF1

11583.p1

chr15:
79298496-79298496

C

T

intronic

De novo

-

8.274E-6

Satterstrom2020 E

RASGRF1

1-0181-004

chr15:
79351957-79351957

C

T

intronic

De novo

-

Yuen2017 G

RASGRF1

2-1154-003

chr15:
79256500-79256500

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

RASGRF1

2-1169-003

chr15:
79474942-79474942

C

CTTCTTTCTTTCTT

intergenic

De novo

-

Yuen2017 G

RASGRF1

REACH000209

chr15:
79294863-79294863

C

T

intronic

De novo

-

Trost2022 G

RASGRF1

B5X9C-01

chr15:
79295757-79295757

C

T

intronic

De novo

-

Trost2022 G

RASGRF1

SP0118912

chr15:
79339163-79339163

C

A

exonic

De novo

nonsynonymous SNV

NM_001145648
NM_002891

c.G803T
c.G803T

p.R268L
p.R268L

26.1

-

Antaki2022 GE
Fu2022 E
Zhou2022 GE

RASGRF1

4-0111-003

chr15:
79263639-79263639

T

C

intronic

De novo

-

Trost2022 G

RASGRF1

2-1261-004

chr15:
79474974-79474978

CTCTT

C

intergenic

De novo

-

Yuen2017 G

RASGRF1

A1320B

chr15:
79290447-79290447

T

C

exonic

De novo

nonsynonymous SNV

NM_153815
NM_001145648
NM_002891

c.A653G
c.A2957G
c.A3005G

p.N218S
p.N986S
p.N1002S

18.95

1.648E-5

Fu2022 E

RASGRF1

01C05531

chr15:
79296261-79296261

T

C

exonic

De novo

nonsynonymous SNV

NM_153815
NM_001145648
NM_002891

c.A28G
c.A2332G
c.A2380G

p.K10E
p.K778E
p.K794E

17.71

-

Fu2022 E

RASGRF1

5-0009-003

chr15:
79365427-79365427

C

A

intronic

De novo

-

Trost2022 G

RASGRF1

4-0084-003

chr15:
79384070-79384070

G

T

upstream

De novo

-

Trost2022 G

RASGRF1

AU4092302

chr15:
79397515-79397515

G

A

intergenic

De novo

-

Yuen2017 G

RASGRF1

7-0240-003

chr15:
79333139-79333139

T

A

intronic

De novo

-

Trost2022 G

RASGRF1

7-0233-003

chr15:
79364060-79364062

CCT

C

intronic

De novo

-

Trost2022 G

RASGRF1

SP0173289

chr15:
79310062-79310062

G

A

intronic

De novo

-

Trost2022 G

RASGRF1

AU2320301

chr15:
79331838-79331838

G

C

intronic

De novo

-

Trost2022 G

RASGRF1

SP0158709

chr15:
79297531-79297531

C

A

UTR5

De novo

-

Trost2022 G

RASGRF1

SSC02231

chr15:
79298496-79298496

C

T

intronic

De novo

-

8.274E-6

Trost2022 G

RASGRF1

7-0001-003

chr15:
79358637-79358637

G

A

intronic

De novo

-

Yuen2017 G

RASGRF1

1474001

chr15:
79317756-79317756

G

A

exonic

De novo

nonsynonymous SNV

NM_001145648
NM_002891

c.C1442T
c.C1442T

p.S481F
p.S481F

22.3

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RASGRF1

2-0238-004

chr15:
79451695-79451695

G

A

intergenic

De novo

-

Yuen2017 G

RASGRF1

G01-GEA-49-HI

chr15:
79298659-79298659

C

T

exonic

De novo

synonymous SNV

NM_001145648
NM_002891

c.G1944A
c.G1983A

p.T648T
p.T661T

-

3.296E-5

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RASGRF1

AU046703

chr15:
79277953-79277953

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RASGRF1

2-1407-003

chr15:
79288675-79288675

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
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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