Genomic variant #0000448553

Individual ID 00214502
Chromosome 15
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as -
ISCN -
DB-ID CAPN3_000000 See all 2 reported entries
Variant remarks no expression of exon 6 sequences
Reference PubMed: Krahn 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 5i c.? pathogenic r.(?_802)_(945_?)del p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215571 DNA;RNA RT-PCR;DHPLC;SEQ - - CAPN3 3 Johan den Dunnen