Genomic variant #0000448109

Individual ID 00214243
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.42652063del
DNA change (hg38) -
Published as 60delA
ISCN -
DB-ID CAPN3_000052 See all 6 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site BsrI+
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Amets Sáenz




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215312 DNA SSCA - - CAPN3 2 Amets Sáenz