Variant #0000368724 (NC_000002.11:g.47604160dup, EPCAM(NM_002354.2):c.499dup)

Individual ID 00164240
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.47604160dup
DNA change (hg38) g.47377021dup
Published as 498insC
ISCN -
DB-ID EPCAM_000024 See all 28 reported entries
Variant remarks -
Reference Al Mayouf 2009
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 +/. 5 c.499dup r.(?) p.(Gln167Profs*21)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165107 DNA SEQ - - EPCAM 1 Mamata Sivagnanam