RGD:13784684 Rat Genome Database

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Variant: RGD:13784684 -  Homo sapiens

RGD ID: 13784684
RS ID: rs1555423222
ClinVar ID: CV548144
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 42,703,199
GRCh38 15 42,411,001
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.42703199G>T
NG_008660.1:g.67899G>T
NC_000015.10:g.42411001G>T
NM_000070.3:c.2380+1G>T
More... 		01/28/2020 splice donor variant pathogenic|likely pathogenic Calpainopathy; Leyden-Moebius muscular dystrophy; Limb-girdle muscular dystrophy type 2; Limb-girdle muscular dystrophy, type 2A; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I; Muscular dystrophy, limb-girdle, type 2A, Amish; Muscular dystrophy, pelvofemoral

Variant Details
Variant Transcripts
Gene Symbol:CAPN3
Accession:NM_000070
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173088
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173090
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173089
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_024344
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173087
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10330340   PMID:15689361   PMID:16199547   PMID:17994539   PMID:18055493   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000671146 CLINVAR
  RCV003472135 CLINVAR
dbSNP (RS) rs1555423222 CLINVAR
MedGen C1869123 CLINVAR
  C4748295 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR
  618129 CLINVAR