Variant #0000166204 (NC_000015.9:g.42694334G>T, CAPN3(NM_000070.2):c.1536+1G>T)

Individual ID 00102539
Chromosome 15
Allele Both (homozygous)
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.42694334G>T
DNA change (hg38) g.42402136G>T
Published as -
ISCN -
DB-ID CAPN3_000407 See all 9 reported entries
Variant remarks -
Reference ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 +/. 12i c.1536+1G>T r.1536_1537insuins1536+2_1537-1 p.Met513Ilefs*2



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000102990 DNA;RNA RT-PCR;SEQ - - CAPN3, LAMA2 1 Nacim Louhichi