Genomic variant #0000179013

Individual ID 00111390
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47610843_47615751del
DNA change (hg38) g.47383704_47388612del
Published as MSH2:c.373C>T + EPCAM:c.859-1462_*1999del
ISCN -
DB-ID EPCAM_000001 See all 18 reported entries
Variant remarks -
Reference Mensenkamp and Ligtenberg
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 INSiGHT group




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1 c.-19488_-14580del pathogenic r.? p.?
EPCAM NM_002354.2 +/. 7i_9_ c.859-1462_*1999del pathogenic r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111855 DNA SEQ;MLPA - - EPCAM 1 INSiGHT group