Variant #0000179013 (NC_000002.11:g.47610843_47615751del, MSH2(NM_000251.2):c.-19488_-14580del)

Individual ID 00111390
Chromosome 2
Allele Unknown
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.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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner INSiGHT group
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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