Variant #0000447064 (NC_000015.9:g.42676699C>T, CAPN3(NM_000070.2):c.328C>T)

Individual ID 00213636
Chromosome 15
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42676699C>T
DNA change (hg38) g.42384501C>T
Published as -
ISCN -
DB-ID CAPN3_000001 See all 20 reported entries
Variant remarks -
Reference PubMed: Richard 1995, PubMed: Vainzof, PubMed: de Paula, OMIM:var0003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 2 c.328C>T r.(?) p.(Arg110*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214705 DNA HD;SEQ;SSCA - - CAPN3 2 Johan den Dunnen