RGD:13792013 Rat Genome Database

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Variant: RGD:13792013 -  Homo sapiens

RGD ID: 13792013
RS ID: rs1459288402
ClinVar ID: CV548061
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 42,681,295
GRCh38 15 42,389,097
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008660.1:g.45995G>A
NC_000015.10:g.42389097G>A
NC_000015.9:g.42681295G>A
NM_000070.3:c.801+1G>A
More... 		07/22/2021 splice donor variant pathogenic Calpainopathy; Leyden-Moebius muscular dystrophy; Limb-girdle muscular dystrophy type 2; Limb-girdle muscular dystrophy, type 2A; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I; Muscular dystrophy, limb-girdle, type 2A, Amish; Muscular dystrophy, pelvofemoral; none provided

Variant Details
Variant Transcripts
Gene Symbol:CAPN3
Accession:NM_000070
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_024344
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173087
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173090
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173088
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173089
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9452114   PMID:11525884   PMID:16141003   PMID:18854869   PMID:25525159   PMID:25741868   PMID:25741916   PMID:26886200   PMID:27671536   PMID:28492532   PMID:30028523  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000668182 CLINVAR
  RCV001509478 CLINVAR
  RCV003459593 CLINVAR
dbSNP (RS) rs1459288402 CLINVAR
MedGen C1869123 CLINVAR
  C3661900 CLINVAR
  C4748295 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR
  618129 CLINVAR