RGD:13536445 Rat Genome Database

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Variant: RGD:13536445 -  Homo sapiens

RGD ID: 13536445
RS ID: rs542523863
ClinVar ID: CV505241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 42,698,153
GRCh38 15 42,405,955
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.62853G>A
NC_000015.10:g.42405955G>A
NC_000015.9:g.42698153G>A
NM_000070.3:c.1800+12G>A
More... 		11/07/2021 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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:5UTRS;INTRON

Gene Symbol:CAPN3
Accession:NM_173090
Location:5UTRS;INTRON

Gene Symbol:CAPN3
Accession:NM_173087
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_000070
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_024344
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 RCV000609014 CLINVAR
  RCV001116288 CLINVAR
dbSNP (RS) rs542523863 CLINVAR
MedGen C1869123 CLINVAR
  CN169374 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR