Genomic variant #0000043407

Individual ID 00022088
Chromosome 2
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47698179A>G
Reference -
DB-ID MSH2_000003 See all 43 reported entries
dbSNP ID rs61756467
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00718
Allele Count 43
Allele Number 5988
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 ./. - c.1737A>G r.(=) p.(=)
MSH2 NM_001258281.1 ./. - c.1539A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007586 DNA SEQ-NG-I 1 - 50 Stevi Xera