RGD:8600653 Rat Genome Database

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Variant: RGD:8600653 -  Homo sapiens

RGD ID: 8600653
RS ID: rs121434547
ClinVar ID: CV32656
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 42,684,847
GRCh38 15 42,392,649
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
NG_008660.1:g.49547C>T
NC_000015.10:g.42392649C>T
NC_000015.9:g.42684847C>T
NP_000061.1:p.Pro319Leu
More... 		03/06/2018 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance adolescent|all ages|variable 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 1I; Muscular dystrophy, limb-girdle, type 2A, Amish; Muscular dystrophy, pelvofemoral; none provided

Variant Details
Variant Transcripts
Gene Symbol:CAPN3
Accession:NM_173087
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEF
PPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYA
GIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFE
IRDAPSDMYKIMKKAIERGSLMGCSIDTIILVQYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGS
WSDRWKDWSFVDKDEKARLQHQVTEDGEFWMSYEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCR
NFPDTFWTNPQYRLKLLEEDDDPDDSEVICSFLVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYN
ASKARSKTYINMREVSQRFRLPPSEYVIVPSTYEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVPQPGSSDQESEEQQ
QFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTDGSGKLNLQEFHHLWNKIKAWQKIFK
HYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVL
EWLQLTMYA*

Gene Symbol:CAPN3
Accession:NM_000070
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 319
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEF
PPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYA
GIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFE
IRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGLNMGELIARMVRNMDNSLLQDSDLDPRGSDERPTRTIILV
QYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGSWSDRWKDWSFVDKDEKARLQHQVTEDGEFWMS
YEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCRNFPDTFWTNPQYRLKLLEEDDDPDDSEVICSF
LVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYNASKARSKTYINMREVSQRFRLPPSEYVIVPST
YEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVKKKKTKPIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQSPQPQ
PGSSDQESEEQQQFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTDGSGKLNLQEFHHL
WNKIKAWQKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFD
KDGDGIIKLNVLEWLQLTMYA*

Gene Symbol:CAPN3
Accession:NM_024344
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 319
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEF
PPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYA
GIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFE
IRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGLNMGELIARMVRNMDNSLLQDSDLDPRGSDERPTRTIILV
QYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGSWSDRWKDWSFVDKDEKARLQHQVTEDGEFWMS
YEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCRNFPDTFWTNPQYRLKLLEEDDDPDDSEVICSF
LVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYNASKARSKTYINMREVSQRFRLPPSEYVIVPST
YEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVPIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQSPQPQPGSSDQ
ESEEQQQFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTDGSGKLNLQEFHHLWNKIKA
WQKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGI
IKLNVLEWLQLTMYA*

Gene Symbol:CAPN3
Accession:NM_173089
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173090
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173088
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9150160   PMID:9642272   PMID:15689361   PMID:16141003   PMID:17562833   PMID:18073330   PMID:25741868   PMID:28492532   PMID:30056071   PMID:30919934   PMID:34602496  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019183 CLINVAR
  RCV000417420 CLINVAR
  RCV003473107 CLINVAR
dbSNP (RS) rs121434547 CLINVAR
MedGen C1869123 CLINVAR
  C3661900 CLINVAR
  C4748295 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR
  618129 CLINVAR
OMIM Allele 114240.0005 CLINVAR