RGD:28876811 Rat Genome Database

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Variant: RGD:28876811 -  Homo sapiens

RGD ID: 28876811
RS ID: rs774343819
ClinVar ID: CV873446
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 42,704,366
GRCh38 15 42,412,168
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024344.2:c.*395G>C
NM_173090.2:c.*395G>C
NG_008660.1:g.69066G>C
NC_000015.9:g.42704366G>C
More...
01/13/2018 3 prime utr 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_000070
Location:3UTRS;EXON

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

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

Gene Symbol:CAPN3
Accession:NM_173088
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001116391 CLINVAR
dbSNP (RS) rs774343819 CLINVAR
MedGen C1869123 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR