RGD:150474462 Rat Genome Database

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Variant: RGD:150474462 -  Homo sapiens

RGD ID: 150474462
RS ID: rs3729954
ClinVar ID: CV1234454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 47,389,342
GRCh38 2 47,162,203
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001305625.2:c.177+83T>G
NM_001305626.1:c.177+83T>G
NM_001743.6:c.285+83T>G
NM_001305624.1:c.429+83T>G
More... 		08/18/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CALM2
Accession:NM_001305624
Location:INTRON

Gene Symbol:CALM2
Accession:NM_001305626
Location:INTRON

Gene Symbol:CALM2
Accession:NM_001743
Location:INTRON

Gene Symbol:CALM2
Accession:NM_001305625
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001651774 CLINVAR
dbSNP (RS) rs3729954 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CALM2 CLINVAR
OMIM 114182 CLINVAR