RGD:40889932 Rat Genome Database

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Variant: RGD:40889932 -  Homo sapiens

RGD ID: 40889932
RS ID: rs1421591415
ClinVar ID: CV975325
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN1  LOC127821458  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 64,953,810
GRCh38 11 65,186,339
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001198868.2:c.759+1G>T
NM_001198869.2:c.759+1G>T
NM_005186.4:c.759+1G>T
NG_052817.1:g.10125G>T
More... 		10/23/2020 splice donor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:CAPN1
Accession:NM_001198868
Location:INTRON

Gene Symbol:CAPN1
Accession:NM_005186
Location:INTRON

Gene Symbol:CAPN1
Accession:XM_011545292
Location:INTRON

Gene Symbol:CAPN1
Accession:XM_006718698
Location:INTRON

Gene Symbol:CAPN1
Accession:NM_001198869
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001268454 CLINVAR
dbSNP (RS) rs1421591415 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CAPN1 CLINVAR
OMIM 114220 CLINVAR