Genomic variant #0000044172

Individual ID 00022114
Chromosome 2
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47709968C>T
Reference -
DB-ID MSH2_000064 See all 2 reported entries
dbSNP ID -
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00033
Allele Count 2
Allele Number 5988
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 ./. - c.2685C>T r.(=) p.(=)
MSH2 NM_001258281.1 ./. - c.2487C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007612 DNA SEQ-NG-I 1 - 47 Stevi Xera