Genomic variant #0000041093

Individual ID 00019978
Chromosome 2
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_47630206)_(47657081_47672686)del
Reference -
DB-ID MSH2_000106 See all 10 reported entries
dbSNP ID -
Variant remarks Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is┬árecommended to describe it only using genomic coordinates.
Genetic origin Germline
Segregation -
Also Known As MSH2 exons 1-6 duplication
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00051
Allele Count 3
Allele Number 5840
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/+ - c.(?) r.(?) p.(?)
MSH2 NM_001258281.1 +/+ - c.(?) r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006275 DNA SEQ 0 EPCAM, MSH2 1 Despoina Kalfakakou