Genomic variant #0000447378

Individual ID 00213792
Chromosome 15
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42652136G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CAPN3_000167 See all 11 reported entries
Variant remarks -
Reference PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007
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 Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 1 c.133G>A pathogenic r.133g>a p.Ala45Thr



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214861 DNA;RNA RT-PCR;SEQ;DHPLC - - CAPN3 2 Johan den Dunnen