Genomic variant #0000447582

Individual ID 00213916
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.42652013G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CAPN3_000051 See all 3 reported entries
Variant remarks -
Reference PubMed: Richard 1999
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00031 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.10G>A pathogenic r.(?) p.(Val4Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214985 DNA SSCA - - CAPN3 1 Johan den Dunnen