RGD:150432706 Rat Genome Database

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Variant: RGD:150432706 -  Homo sapiens

RGD ID: 150432706
RS ID: rs56742913
ClinVar ID: CV1200762
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 47,404,063
GRCh38 2 47,176,924
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.-181A>C
NG_042065.1:g.5013A>C
NC_000002.12:g.47176924T>G
NC_000002.11:g.47404063T>G
More...
09/22/2018 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CALM2
Accession:NM_001305625
Location:5UTRS;EXON

Gene Symbol:CALM2
Accession:NM_001743
Location:INTRON

Gene Symbol:CALM2
Accession:NM_001305626
Location:INTRON

Gene Symbol:CALM2
Accession:NM_001305624
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001581486 CLINVAR
dbSNP (RS) rs56742913 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CALM2 CLINVAR
  LOC129933686 CLINVAR
OMIM 114182 CLINVAR