Genomic variant #0000448803

Individual ID 00214663
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.(?_42651698)_(42652313_42676680)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID CAPN3_000447
Variant remarks exon 1 deletion, unknown variant 2nd allele
Reference -
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 Nicolas Levy




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. _1_1i c.(?_-306)_(309+1_310-1)del pathogenic r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215732 DNA PCR - - CAPN3 1 Nicolas Levy