Variant #0000394526 (NC_000002.11:g.47610449_47639303del, MSH2(NM_000251.2):c.-19886_646-254del)

Individual ID 00173807
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.47610449_47639303del
DNA change (hg38) g.47383310_47412164del
Published as -
ISCN -
DB-ID EPCAM_000062
Variant remarks 28854 bp deletion +_AluY to +_AluSx
Reference PubMed: Perez-Cabornero 2011
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_3i c.-19886_646-254del r.0? p.0?
EPCAM NM_002354.2 +/. 7i_9_ c.859-1860_*25547del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174698 DNA SEQ - - EPCAM, MSH2 1 Mamata Sivagnanam