Genomic variant #0000041088

Individual ID 00019797
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.47686783_47697222del
Reference -
DB-ID MSH2_000108 See all 6 reported entries
dbSNP ID -
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As MSH2 exons 9-10 deletion
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 0.00017
Allele Count 1
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 +/+ 9_10 c.1387-3387_1662-882del r.(?) p.(Val463_Ser554del)  
MSH2 NM_001258281.1 +/+ - c.1189-3387_1464-882del r.(?) p.(Val397Glnfs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006158 DNA MLPA 1 MSH2 1 Despoina Kalfakakou