Variant #0000449459 (NC_000015.9:g.42693953G>A, CAPN3(NM_000070.2):c.1469G>A)

Individual ID 00215004
Chromosome 15
Allele Unknown
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.42693953G>A
DNA change (hg38) g.42401755G>A
Published as -
ISCN -
DB-ID CAPN3_000034 See all 59 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 7.0E-5 View details
Owner Tom Winder
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 11 c.1469G>A r.(?) p.(Arg490Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000216073 DNA PCR;SEQ - - CAPN3 2 Tom Winder