Genomic variant #0000449526

Individual ID 00215061
Chromosome 15
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42652062del
DNA change (hg38) -
Published as 59delC
ISCN -
DB-ID CAPN3_000530 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marina Fanin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 1 c.59del pathogenic r.(?) p.(Pro20Glnfs*37)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000216130 DNA SEQ - - CAPN3 2 Marina Fanin