RGD:11654360 Rat Genome Database

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Variant: RGD:11654360 -  Homo sapiens

RGD ID: 11654360
RS ID: rs886051152
ClinVar ID: CV331836
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 42,704,414
GRCh38 15 42,412,216
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000070.2:c.*443A>C
NM_173088.2:c.*443A>C
NM_173089.2:c.*443A>C
NM_173090.2:c.*443A>C
More... 		06/14/2016 3 prime utr variant uncertain significance adolescent 1-9 / 100 000 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_173088
Location:3UTRS;EXON

Gene Symbol:CAPN3
Accession:NM_173090
Location:3UTRS;EXON

Gene Symbol:CAPN3
Accession:NM_024344
Location:3UTRS;EXON

Gene Symbol:CAPN3
Accession:NM_000070
Location:3UTRS;EXON

Gene Symbol:CAPN3
Accession:NM_173087
Location:3UTRS;EXON

Gene Symbol:CAPN3
Accession:NM_173089
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000316749 CLINVAR
  RCV000380589 CLINVAR
dbSNP (RS) rs886051152 CLINVAR
MedGen C1869123 CLINVAR
  CN239352 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR