Genomic variant #0000448792

Individual ID 00214655
Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42652065G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CAPN3_000265 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01384 View details
Owner Lab Müller-Reible




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 ?/. 1 c.62G>A VUS r.(?) p.(Gly21Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215724 DNA SEQ - - CAPN3 2 Lab Müller-Reible