Genomic variant #0000019396

Individual ID 00020013
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.47702343G>T
Reference -
DB-ID MSH2_000043
dbSNP ID rs63750078
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.1939G>T r.(?) p.(Glu647*)
MSH2 NM_001258281.1 +/+ - c.1741G>T r.(?) p.(Glu581*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000656 DNA SEQ-NG-I 1 - 21 Despoina Kalfakakou