RGD:13610132 Rat Genome Database

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Variant: RGD:13610132 -  Homo sapiens

RGD ID: 13610132
RS ID: rs1057524468
ClinVar ID: CV528787
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 42,686,541
GRCh38 15 42,394,343
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.9:g.42686541T>A
NG_008660.1:g.51241T>A
NC_000015.10:g.42394343T>A
NM_000070.3:c.1115+2T>A
More... 		09/17/2017 splice donor variant likely pathogenic 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:INTRON

Gene Symbol:CAPN3
Accession:NM_173087
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

Variant Samples
Additional References at PubMed
PMID:10330340   PMID:15689361   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000644977 CLINVAR
dbSNP (RS) rs1057524468 CLINVAR
MedGen C1869123 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR