RGD:13503451 Rat Genome Database

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Variant: RGD:13503451 -  Homo sapiens

RGD ID: 13503451
RS ID: rs200379491
ClinVar ID: CV465015
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 42,702,630
GRCh38 15 42,410,432
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000070.3:c.2120A>G
NC_000015.10:g.42410432A>G
NC_000015.9:g.42702630A>G
NP_000061.1:p.Asp707Gly
More... 		12/01/2020 missense 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, autosomal dominant 4; 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_173089
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTGGSGKLNLQEFHHLWNKIKAWQKIFKHYDTDQSGTINSY
EMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVLEWLQLTMYA*

Gene Symbol:CAPN3
Accession:NM_024344
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 701
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEF
PPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYA
GIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFE
IRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGLNMGELIARMVRNMDNSLLQDSDLDPRGSDERPTRTIIPV
QYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGSWSDRWKDWSFVDKDEKARLQHQVTEDGEFWMS
YEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCRNFPDTFWTNPQYRLKLLEEDDDPDDSEVICSF
LVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYNASKARSKTYINMREVSQRFRLPPSEYVIVPST
YEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVPIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQSPQPQPGSSDQ
ESEEQQQFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTGGSGKLNLQEFHHLWNKIKA
WQKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGI
IKLNVLEWLQLTMYA*

Gene Symbol:CAPN3
Accession:NM_000070
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 707
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEF
PPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYA
GIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFE
IRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGLNMGELIARMVRNMDNSLLQDSDLDPRGSDERPTRTIIPV
QYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGSWSDRWKDWSFVDKDEKARLQHQVTEDGEFWMS
YEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCRNFPDTFWTNPQYRLKLLEEDDDPDDSEVICSF
LVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYNASKARSKTYINMREVSQRFRLPPSEYVIVPST
YEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVKKKKTKPIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQSPQPQ
PGSSDQESEEQQQFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTGGSGKLNLQEFHHL
WNKIKAWQKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFD
KDGDGIIKLNVLEWLQLTMYA*

Gene Symbol:CAPN3
Accession:NM_173088
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHGNKQHLQKDFFLYNASKARSKTYINMREVSQRFRLPPSEYVIVPSTYEPHQEGEFILRVFSEKRNLSEEVENTISVDR
PVKKKKTKPIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQSPQPQPGSSDQESEEQQQFRNIFKQIAGDDMEICADE
LKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTGGSGKLNLQEFHHLWNKIKAWQKIFKHYDTDQSGTINSYEMRNAVN
DAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVLEWLQLTMYA*

Gene Symbol:CAPN3
Accession:NM_173090
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTGGSGKLNLQEFHHLWNKIKAWQKIFKHYDTDQSGTINSY
EMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVLEWLQLTMYA*

Gene Symbol:CAPN3
Accession:NM_173087
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 615
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEF
PPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYA
GIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFE
IRDAPSDMYKIMKKAIERGSLMGCSIDTIIPVQYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGS
WSDRWKDWSFVDKDEKARLQHQVTEDGEFWMSYEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCR
NFPDTFWTNPQYRLKLLEEDDDPDDSEVICSFLVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYN
ASKARSKTYINMREVSQRFRLPPSEYVIVPSTYEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVPQPGSSDQESEEQQ
QFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTGGSGKLNLQEFHHLWNKIKAWQKIFK
HYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVL
EWLQLTMYA*
Variant Samples
Additional References at PubMed
PMID:10567047   PMID:11525884   PMID:25079074   PMID:25252031   PMID:25741868   PMID:26632398   PMID:27066573   PMID:27363342   PMID:28492532   PMID:30919934  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000542626 CLINVAR
  RCV000723534 CLINVAR
  RCV002476173 CLINVAR
  RCV003431092 CLINVAR
  RCV003476296 CLINVAR
dbSNP (RS) rs200379491 CLINVAR
MedGen C1869123 CLINVAR
  C3661900 CLINVAR
  C4748295 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR
  618129 CLINVAR