Genomic variant #0000033859

Individual ID 00021745
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.47690162G>T
Reference -
DB-ID MSH2_000002 See all 42 reported entries
dbSNP ID rs187525243
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 0.00719
Allele Count 42
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.1387-8G>T r.(=) p.(=)
MSH2 NM_001258281.1 -/- - c.1189-8G>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001998 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou