Genomic variant #0000447090

Individual ID 00213649
Chromosome 15
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42680002del
DNA change (hg38) -
Published as 550delA
ISCN -
DB-ID CAPN3_000010 See all 324 reported entries
Variant remarks -
Reference PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 4 c.550del pathogenic r.(?) p.(Thr184Argfs*36)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214718 DNA PCR - - CAPN3 2 Johan den Dunnen