Genomic variant #0000041086

Individual ID 00021925
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.47409347-47412870del
Reference -
DB-ID MSH2_000107 See all 2 reported entries
dbSNP ID -
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As MSH2 exons 3-4 deletion
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Average frequency in greek population Genomic location of variant could not be determined
Allele Count 1
Allele Number 5840
Owner Despoina Kalfakakou




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/+ 3_4 c.367-748_793-1400del r.(?) p.(Ala123_Gln264del)
MSH2 NM_001258281.1 +/+ - c.169-748_594+309del r.(?) p.(Ala57_Gln198del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007482 DNA MLPA 0 MSH2 1 Despoina Kalfakakou