Genomic variant #0000448436

Individual ID 00214405
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.42652149G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CAPN3_000190 See all 9 reported entries
Variant remarks -
Reference PubMed: Todorova 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.146G>A pathogenic r.(?) p.(Arg49His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215474 DNA SEQ - - CAPN3 2 Johan den Dunnen