RGD:11642860 Rat Genome Database

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Variant: RGD:11642860 -  Homo sapiens

RGD ID: 11642860
RS ID: rs761238719
ClinVar ID: CV269418
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 42,652,010
GRCh38 15 42,359,812
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008660.1:g.16710A>G
NC_000015.10:g.42359812A>G
NC_000015.9:g.42652010A>G
NP_000061.1:p.Thr3Ala
More... 		01/08/2016 missense variant uncertain significance 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CAPN3
Accession:NM_173087
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEF
PPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYA
GIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFE
IRDAPSDMYKIMKKAIERGSLMGCSIDTIIPVQYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGS
WSDRWKDWSFVDKDEKARLQHQVTEDGEFWMSYEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCR
NFPDTFWTNPQYRLKLLEEDDDPDDSEVICSFLVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYN
ASKARSKTYINMREVSQRFRLPPSEYVIVPSTYEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVPQPGSSDQESEEQQ
QFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTDGSGKLNLQEFHHLWNKIKAWQKIFK
HYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVL
EWLQLTMYA*

Gene Symbol:CAPN3
Accession:NM_000070
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEF
PPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYA
GIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFE
IRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGLNMGELIARMVRNMDNSLLQDSDLDPRGSDERPTRTIIPV
QYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGSWSDRWKDWSFVDKDEKARLQHQVTEDGEFWMS
YEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCRNFPDTFWTNPQYRLKLLEEDDDPDDSEVICSF
LVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYNASKARSKTYINMREVSQRFRLPPSEYVIVPST
YEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVKKKKTKPIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQSPQPQ
PGSSDQESEEQQQFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTDGSGKLNLQEFHHL
WNKIKAWQKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFD
KDGDGIIKLNVLEWLQLTMYA*

Gene Symbol:CAPN3
Accession:NM_024344
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEF
PPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYA
GIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFE
IRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGLNMGELIARMVRNMDNSLLQDSDLDPRGSDERPTRTIIPV
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000382109 CLINVAR
  RCV001855149 CLINVAR
  RCV002487224 CLINVAR
dbSNP (RS) rs761238719 CLINVAR
MedGen C1869123 CLINVAR
  CN517202 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR
  253600 CLINVAR
  618129 CLINVAR