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Results for "RCAN2"

Variant Events: 10

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
RCAN2     AU3343301chr6:
46233662-46233662
TGintronicDe novo--Yuen2017 G
RCAN2     A13chr6:
46364797-46364797
GAintronicDe novo--Wu2018 G
RCAN2     1-0445-003chr6:
46214543-46214543
GAexonicDe novosynonymous SNVNM_005822
NM_001251973
NM_001251974
c.C375T
c.C513T
c.C513T
p.N125N
p.N171N
p.N171N
-2.0E-4Yuen2017 G
RCAN2     1-0191-004chr6:
46244035-46244035
CTintronicDe novo--Yuen2017 G
RCAN2     iHART1560chr6:
46190958-46190958
CAexonicPaternalstopgainNM_005822
NM_001251973
NM_001251974
c.G514T
c.G652T
c.G652T
p.E172X
p.E218X
p.E218X
28.3-Ruzzo2019 G
RCAN2     2-1089-003chr6:
46343842-46343842
TCintronicDe novo--Yuen2017 G
RCAN2     2-1526-003chr6:
46243504-46243504
TCintronicDe novo--Yuen2017 G
RCAN2     1-0985-003chr6:
46205706-46205706
CTintronicDe novo--Yuen2017 G
RCAN2     2-0182-003chr6:
46190586-46190586
TCUTR3De novo--Yuen2017 G
RCAN2     2-1242-003chr6:
46222530-46222530
GAintronicDe novo--Yuen2016 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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