Genomic variant #0000368750

Individual ID 00164266
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.47601114_47601130del
DNA change (hg38) g.47373975_47373991del
Published as -
ISCN -
DB-ID EPCAM_000043 See all 2 reported entries
Variant remarks -
Reference Salomon 2014
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 Mamata Sivagnanam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 3 c.352_368del r.(?) p.(Cys118Glyfs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165133 DNA SEQ - - EPCAM 1 Mamata Sivagnanam