Genomic variant #0000025675

Individual ID 00017605
Chromosome 2
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.47641430C>T
Reference -
DB-ID MSH2_000055 See all 4 reported entries
dbSNP ID rs34136999
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 0.00068
Allele Count 4
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.815C>T r.(?) p.(Ala272Val)
MSH2 NM_001258281.1 -/- - c.617C>T r.(?) p.(Ala206Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001271 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou