Variant #0000447171 (NC_000015.9:g.42703180_42703181delinsTCATCT, CAPN3(NM_000070.2):c.2362_2363delinsTCATCT)

Individual ID 00213688
Chromosome 15
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42703180_42703181delinsTCATCT
DNA change (hg38) g.42410982_42410983delinsTCATCT
Published as -
ISCN -
DB-ID CAPN3_000015 See all 93 reported entries
Variant remarks -
Reference PubMed: Krahn 2006, OMIM:var0006
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 22 c.2362_2363delinsTCATCT r.(?) p.(Arg788Serfs*14)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214757 DNA SEQ - - CAPN3 2 Johan den Dunnen