RGD:21074032 Rat Genome Database

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Variant: RGD:21074032 -  Homo sapiens

RGD ID: 21074032
RS ID: rs377259262
ClinVar ID: CV796619
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN1  LOC126861236  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 64,977,803
GRCh38 11 65,210,332
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001198869.2:c.1943-4C>A
NC_000011.10:g.65210332C>A
NC_000011.9:g.64977803C>A
NC_000011.9:g.64977803C>A
More... 		10/20/2021 intron variant conflicting interpretations of pathogenicity|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CAPN1
Accession:NM_005186
Location:INTRON

Gene Symbol:CAPN1
Accession:XM_006718698
Location:INTRON

Gene Symbol:CAPN1
Accession:XM_011545292
Location:INTRON

Gene Symbol:CAPN1
Accession:NM_001198869
Location:INTRON

Gene Symbol:CAPN1
Accession:NM_001198868
Location:INTRON

Gene Symbol:CAPN1
Accession:NR_040008
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000994658 CLINVAR
dbSNP (RS) rs377259262 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CAPN1 CLINVAR
  LOC126861236 CLINVAR
OMIM 114220 CLINVAR