Genomic variant #0000027487

Individual ID 00020632
Chromosome 2
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.47698179A>G
Reference -
DB-ID MSH2_000003 See all 41 reported entries
dbSNP ID rs61756467
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 0.007
Owner Despoina Kalfakakou
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     
0000001427 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou