Variant Results

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Results for "RASGRP1"

Variant Events: 15

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

RASGRP1

11144.p1

chr15:
38808422-38808422

C

T

exonic

De novo

synonymous SNV

NM_001128602
NM_001306086
NM_005739

c.G651A
c.G651A
c.G651A

p.E217E
p.E217E
p.E217E

-

-

Krumm2015 E
Krupp2017 E
Zhou2022 GE

RASGRP1

AU4468301

chr15:
38938921-38938921

G

A

intergenic

De novo

-

-

Yuen2017 G

RASGRP1

2-1093-009

chr15:
38953470-38953470

C

T

intergenic

De novo

-

-

Yuen2017 G

RASGRP1

12529.p1

chr15:
38848981-38848981

A

G

intronic

De novo

-

-

Turner2016 G

RASGRP1

AU3451301

chr15:
38969378-38969378

T

C

intergenic

De novo

-

-

Yuen2017 G

RASGRP1

11194.p1

chr15:
38874348-38874348

G

A

intergenic

De novo

-

-

Turner2016 G

RASGRP1

5-0083-003

chr15:
38847731-38847731

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RASGRP1

Kim2020:B12

chr15:
38808409-38808409

G

A

exonic

De novo

nonsynonymous SNV

NM_001128602
NM_001306086
NM_005739

c.C664T
c.C664T
c.C664T

p.R222W
p.R222W
p.R222W

15.52

-

Kim2020 E

RASGRP1

2-0022-005

chr15:
38796766-38796766

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

RASGRP1

11194.p1

chr15:
38928078-38928078

A

G

intergenic

De novo

-

-

Turner2016 G

RASGRP1

5-5223-003

chr15:
38793265-38793265

T

A

intronic

De novo

-

-

Trost2022 G

RASGRP1

1-0433-003

chr15:
38843133-38843133

A

G

intronic

De novo

-

-

Trost2022 G

RASGRP1

AU076508

chr15:
38838630-38838630

T

C

intronic

De novo

-

-

Yuen2017 G

RASGRP1

11144_p1

chr15:
38808422-38808422

C

T

exonic

De novo

synonymous SNV

NM_001128602
NM_001306086
NM_005739

c.G651A
c.G651A
c.G651A

p.E217E
p.E217E
p.E217E

-

-

Fu2022 E

RASGRP1

AU3900301

Complex Event; expand row to view variants

De novo

-

-

Yuen2017 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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