RGD:14710001 Rat Genome Database

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Variant: RGD:14710001 -  Homo sapiens

RGD ID: 14710001
RS ID: rs373194123
ClinVar ID: CV652409
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 42,698,146
GRCh38 15 42,405,948
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.1782+2171G>A
NM_173088.2:c.264+5G>A
NM_173090.2:c.-82+5G>A
NM_000070.3:c.1800+5G>A
More... 		11/28/2018 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:5UTRS;INTRON

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

Gene Symbol:CAPN3
Accession:NM_024344
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_000070
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173088
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173087
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000813525 CLINVAR
dbSNP (RS) rs373194123 CLINVAR
MedGen C1869123 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR