Genomic variant #0000024534

Individual ID 00021419
Chromosome 2
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.47637365G>C
Reference -
DB-ID MSH2_000027 See all 5 reported entries
dbSNP ID rs63750255
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 0.00086
Allele Count 5
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.499G>C r.(?) p.(Asp167His)
MSH2 NM_001258281.1 -/- - c.301G>C r.(?) p.(Asp101His)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001135 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou