Genomic variant #0000004361

Individual ID 00016389
Chromosome 2
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.47672756A>G
Reference -
DB-ID MSH2_000001
dbSNP ID rs879254064
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.1346A>G r.(?) p.(Lys449Arg)
MSH2 NM_001258281.1 ?/? - c.1148A>G r.(?) p.(Lys383Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000108 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou