Genomic variant #0000011913

Individual ID 00016621
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.47707955C>T
Reference -
DB-ID MSH2_000020
dbSNP ID rs63750849
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.2579C>T r.(?) p.(Ser860Leu)
MSH2 NM_001258281.1 -?/-? - c.2381C>T r.(?) p.(Ser794Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000311 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou