Genomic variant #0000448180

Individual ID 00214279
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.42652148C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID CAPN3_000263 See all 11 reported entries
Variant remarks -
Reference PubMed: Groen 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 Lab Müller-Reible




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000215348 DNA SEQ - - CAPN3 2 Lab Müller-Reible