Genomic variant #0000038234

Individual ID 00019615
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.47657041C>T
Reference Thodi et al (2010) Vargas-Parra et al (2017)
DB-ID MSH2_000090
dbSNP ID  rs863225387
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 0.00017
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 +/+ - c.1237C>T r.(?) p.(Gln413*)
MSH2 NM_001258281.1 +/+ - c.1039C>T r.(?) p.(Gln347*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005974 DNA SEQ 1 MSH2 1 Despoina Kalfakakou