RGD:13482623 Rat Genome Database

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Variant: RGD:13482623 -  Homo sapiens

RGD ID: 13482623
RS ID: rs1553431791
ClinVar ID: CV451057
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 47,389,539
GRCh38 2 47,162,400
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042065.1:g.19537C>G
NC_000002.12:g.47162400G>C
NC_000002.11:g.47389539G>C
NM_001743.6:c.179-8C>G
More... 		08/16/2018 intron variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


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_001305624
Location:INTRON

Gene Symbol:CALM2
Accession:NM_001743
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000786283 CLINVAR
  RCV002231250 CLINVAR
dbSNP (RS) rs1553431791 CLINVAR
MedGen C3661900 CLINVAR
  C4551647 CLINVAR
NCBI Gene CALM2 CLINVAR
OMIM 114182 CLINVAR
  192500 CLINVAR