RGD:13788432 Rat Genome Database

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Variant: RGD:13788432 -  Homo sapiens

RGD ID: 13788432
RS ID: rs1555420507
ClinVar ID: CV547423
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 42,680,088
GRCh38 15 42,387,890
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.44788A>G
NC_000015.10:g.42387890A>G
NC_000015.9:g.42680088A>G
NM_000070.3:c.632+4A>G
More... 		04/02/2023 intron variant pathogenic|conflicting interpretations of pathogenicity|uncertain significance 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

Variant Details
Variant Transcripts
Gene Symbol:CAPN3
Accession:NM_173088
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_024344
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_000070
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173090
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173089
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173087
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:15689361   PMID:17576681   PMID:18563459   PMID:25741868   PMID:28492532   PMID:33335567  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000665369 CLINVAR
  RCV003459570 CLINVAR
dbSNP (RS) rs1555420507 CLINVAR
MedGen C1869123 CLINVAR
  C4748295 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR
  618129 CLINVAR