Variant #0000368801 (NC_000002.11:g.47606115del, EPCAM(NM_002354.2):c.579del)

Individual ID 00164317
Chromosome 2
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.47606115del
DNA change (hg38) g.47378976del
Published as 579delT
ISCN -
DB-ID EPCAM_000053 See all 2 reported entries
Variant remarks -
Reference Sivagnanam, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mamata Sivagnanam
Database submission license No license selected
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 6 c.579del r.(?) p.(Ile193Metfs*17)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165184 DNA SEQ - - EPCAM 1 Mamata Sivagnanam