RGD:13528283 Rat Genome Database

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Variant: RGD:13528283 -  Homo sapiens

RGD ID: 13528283
RS ID: rs766437970
ClinVar ID: CV499957
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 47,389,643
GRCh38 2 47,162,504
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001743.6:c.178+15T>C
NM_001305624.1:c.322+15T>C
NC_000002.12:g.47162504A>G
NG_042065.1:g.19433T>C
More... 		04/17/2017 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CALM2
Accession:NM_001305625
Location:INTRON

Gene Symbol:CALM2
Accession:NM_001305626
Location:INTRON

Gene Symbol:CALM2
Accession:NM_001743
Location:INTRON

Gene Symbol:CALM2
Accession:NM_001305624
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000600011 CLINVAR
dbSNP (RS) rs766437970 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CALM2 CLINVAR
OMIM 114182 CLINVAR