Genomic variant #0000447724

Individual ID 00214039
Chromosome 15
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42651452G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CAPN3_000262
Variant remarks -
Reference PubMed: Todorova 2005
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 Lab Müller-Reible




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 ?/. 1 c.-552G>A VUS r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215108 DNA SEQ - - CAPN3 1 Lab Müller-Reible