Genomic variant #0000448105

Individual ID 00214241
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.42652103del
DNA change (hg38) -
Published as 100delG
ISCN -
DB-ID CAPN3_000165
Variant remarks -
Reference PubMed: Fanin 2004, PubMed: Pizzanelli 2006
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 Marina Fanin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 1 c.100del pathogenic r.(?) p.(Ala34fs*23)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215310 DNA DHPLC - - CAPN3 2 Marina Fanin