Genomic variant #0000038388

Individual ID 00019994
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.47702265C>T
Reference -
DB-ID MSH2_000094 See all 3 reported entries
dbSNP ID rs63750508
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As -
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 0.00034
Allele Count 2
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.1861C>T r.(?) p.(Arg621*)
MSH2 NM_001258281.1 +/+ - c.1663C>T r.(?) p.(Arg555*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006284 DNA SEQ 0 MSH2 1 Despoina Kalfakakou