Genomic variant #0000017060

Individual ID 00019775
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.47672695del
Reference -
DB-ID MSH2_000093 See all 4 reported entries
dbSNP ID rs1114167833
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 0.00034
Allele Count 2
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.1285del r.(?) p.(Gln429Argfs*9)
MSH2 NM_001258281.1 +/+ - c.1087del r.(?) p.(Gln363Argfs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000463 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou