Genomic variant #0000449469

Individual ID 00215010
Chromosome 15
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42652081G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CAPN3_000513
Variant remarks from website {DBsub-Emory}
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01884 View details
Owner Madhuri Hegde




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 -/. 1 c.78G>A benign r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000216079 DNA SEQ - - CAPN3 1 Madhuri Hegde