Genomic variant #0000448757

Individual ID 00214625
Chromosome 15
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42652099T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID CAPN3_000061 See all 12 reported entries
Variant remarks -
Reference PubMed: Saenz 2005
ClinVar ID -
dbSNP ID rs1801496
Origin Germline
Segregation -
Frequency 0.12
Re-site HhaI-;AluI+
VIP 0
Methylation -
Average frequency (large NGS studies) 0.10028 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 -/. 1 c.96T>C benign r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215694 DNA SEQ - - CAPN3 1 Johan den Dunnen