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Results for "RASGRP1"

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
RASGRP1     11144.p1chr15:
38808422-38808422
CTexonicDe novosynonymous SNVNM_001128602
NM_001306086
NM_005739
c.G651A
c.G651A
c.G651A
p.E217E
p.E217E
p.E217E
--Krumm2015 E
Krupp2017 E
RASGRP1     AU4468301chr15:
38938921-38938921
GAintergenicDe novo--Yuen2017 G
RASGRP1     2-1093-009chr15:
38953470-38953470
CTintergenicDe novo--Yuen2017 G
RASGRP1     AU076508chr15:
38838630-38838630
TCintronicDe novo--Yuen2017 G
RASGRP1     12529.p1chr15:
38848981-38848981
AGintronicDe novo--Turner2016 G
RASGRP1     AU3451301chr15:
38969378-38969378
TCintergenicDe novo--Yuen2017 G
RASGRP1     11194.p1chr15:
38874348-38874348
GAintergenicDe novo--Turner2016 G
RASGRP1     5-0083-003chr15:
38847731-38847731
CGintronicDe novo--Yuen2017 G
RASGRP1     Kim2020:B12chr15:
38808409-38808409
GAexonicDe novononsynonymous SNVNM_001128602
NM_001306086
NM_005739
c.C664T
c.C664T
c.C664T
p.R222W
p.R222W
p.R222W
15.52-Kim2020 E
RASGRP1     2-0022-005chr15:
38796766-38796766
GCintronicDe novo--Yuen2017 G
RASGRP1     AU3900301 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
RASGRP1     11194.p1chr15:
38928078-38928078
AGintergenicDe novo--Turner2016 G
Source Variant Information

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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 notesView
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