Variant #0000447109 (NC_000015.9:g.42680002del, CAPN3(NM_000070.2):c.550del)

Individual ID 00213658
Chromosome 15
Allele Parent #2
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.42680002del
DNA change (hg38) g.42387804del
Published as 550delA
ISCN -
DB-ID CAPN3_000010 See all 364 reported entries
Variant remarks -
Reference PubMed: Hermanova 2005
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 +/. 4 c.550del r.(?) p.(Thr184Argfs*36)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214727 DNA DHPLC - - CAPN3 2 Johan den Dunnen