Genomic variant #0000447073

Individual ID 00213640
Chromosome 15
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42693952C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID CAPN3_000009 See all 67 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Gabriele Dekomien




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 11 c.1468C>T pathogenic r.(?) p.(Arg490Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214709 DNA DHPLC - - CAPN3 2 Gabriele Dekomien