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Results for "RASGRP3"

Variant Events: 28

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
RASGRP3     2-1818-003chr2:
33747810-33747810
CTintronicDe novo--Trost2022 G
RASGRP3     2-0122-003chr2:
33768636-33768636
GAexonicDe novononsynonymous SNVNM_015376
NM_001139488
NM_170672
c.G1333A
c.G1336A
c.G1336A
p.E445K
p.E446K
p.E446K
35.0-Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE
RASGRP3     7-0402-003chr2:
33715399-33715399
TAintronicDe novo--Trost2022 G
RASGRP3     AU3858302chr2:
33702090-33702090
GAintronicDe novo--Yuen2017 G
RASGRP3     3-0465-000chr2:
33751662-33751662
ATintronicDe novo--Trost2022 G
RASGRP3     2-1458-003chr2:
33747866-33747867
TAATintronicDe novo--Trost2022 G
RASGRP3     7-0202-003chr2:
33684290-33684290
CTintronicDe novo--Trost2022 G
RASGRP3     7-0202-003chr2:
33684287-33684287
TCintronicDe novo--Trost2022 G
RASGRP3     mAGRE4126chr2:
33784062-33784062
CTexonicMaternalstopgainNM_015376
NM_001139488
NM_170672
c.C2026T
c.C2029T
c.C2029T
p.Q676X
p.Q677X
p.Q677X
40.03.626E-5Cirnigliaro2023 G
RASGRP3     2-0198-005chr2:
33714445-33714445
TGintronicDe novo--Yuen2017 G
RASGRP3     MSSNG00014-004chr2:
33699531-33699531
GAintronicDe novo--Trost2022 G
RASGRP3     mAGRE4476chr2:
33673011-33673011
GCsplicingPaternalsplicing--Cirnigliaro2023 G
RASGRP3     AU2448301chr2:
33693571-33693571
CTintronicDe novo--Trost2022 G
RASGRP3     2-0300-004chr2:
33789789-33789789
TCUTR3De novo--Yuen2017 G
RASGRP3     3-0749-000Achr2:
33783491-33783491
CGintronicDe novo--Trost2022 G
RASGRP3     3-0749-000Achr2:
33778340-33778340
GCintronicDe novo--Trost2022 G
RASGRP3     1-0345-003chr2:
33680563-33680563
CTintronicDe novo--Trost2022 G
Yuen2017 G
RASGRP3     1-0248-003chr2:
33793580-33793580
TGintergenicDe novo--Yuen2017 G
RASGRP3     2-1094-005chr2:
33666601-33666601
CTintronicDe novo--Trost2022 G
Yuen2017 G
RASGRP3     1-0806-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
RASGRP3     AU036203chr2:
33683055-33683055
CTintronicDe novo--Trost2022 G
Yuen2017 G
RASGRP3     2-0198-004chr2:
33714445-33714445
TGintronicDe novo--Trost2022 G
Yuen2017 G
RASGRP3     2-1315-003chr2:
33799133-33799133
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
RASGRP3     80001100648chr2:
33741596-33741596
AGintronicDe novo--Satterstrom2020 E
Trost2022 G
RASGRP3     MT_70.3chr2:
33661562-33661562
TCUTR5De novo--Trost2022 G
RASGRP3     1-1010-003chr2:
33666247-33666247
CTintronicDe novo--Trost2022 G
RASGRP3     1-1223-003chr2:
33663139-33663139
TCintronicDe novo--Trost2022 G
RASGRP3     AU4093304chr2:
33719260-33719260
TCintronicDe novo--Trost2022 G
Yuen2017 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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