RGD:26921699 Rat Genome Database

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Variant: RGD:26921699 -  Homo sapiens

RGD ID: 26921699
RS ID: rs1287322728
ClinVar ID: CV851613
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 42,702,620
GRCh38 15 42,410,422
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_173090.2:c.121-6C>G
NM_173087.2:c.1840-6C>G
NM_173089.2:c.121-6C>G
NC_000015.9:g.42702620C>G
More... 		12/04/2019 intron variant uncertain significance Calpainopathy; Leyden-Moebius muscular dystrophy; Limb-girdle muscular dystrophy type 2; Limb-girdle muscular dystrophy, type 2A; Muscular dystrophy, limb-girdle, type 2A, Amish; Muscular dystrophy, pelvofemoral
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CAPN3
Accession:NM_173089
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_000070
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173088
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001061238 CLINVAR
dbSNP (RS) rs1287322728 CLINVAR
MedGen C1869123 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR