RGD:13529424 Rat Genome Database

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Variant: RGD:13529424 -  Homo sapiens

RGD ID: 13529424
RS ID: rs1555422168
ClinVar ID: CV505635
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAPN3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 42,694,306
GRCh38 15 42,402,108
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.42402108T>G
NG_008660.1:g.59006T>G
NC_000015.9:g.42694306T>G
NM_000070.3:c.1525-16T>G
More... 		01/18/2017 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CAPN3
Accession:NM_024344
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173090
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173088
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_000070
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173087
Location:INTRON

Gene Symbol:CAPN3
Accession:NM_173089
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000605730 CLINVAR
dbSNP (RS) rs1555422168 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CAPN3 CLINVAR
OMIM 114240 CLINVAR