Variant #0000394537 (NC_000002.11:g.(?_47596644)_(47639700_47641407)del, MSH2(NM_000251.2):c.-33687_-16578del)

Individual ID 00173818
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_47596644)_(47639700_47641407)del
DNA change (hg38) g.(?_47369505)_(47412561_47414268)del
Published as -
ISCN -
DB-ID EPCAM_000064
Variant remarks 56290 bp deletion
Reference PubMed: Villacis 2017
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1_4i c.-33687_-16578del r.0? p.0?
EPCAM NM_002354.2 +/. _1_9_ c.(_-1)_(*415_?)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174709 DNA SEQ - - EPCAM 1 Mamata Sivagnanam