Genomic variant #0000044046

Individual ID 00022110
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.47643457G>A
Reference -
DB-ID MSH2_000110 See all 5 reported entries
dbSNP ID rs4987188
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 0.00084
Allele Count 5
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.965G>A r.(?) p.(Gly322Asp)
MSH2 NM_001258281.1 ./. - c.767G>A r.(?) p.(Gly256Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007608 DNA SEQ-NG-I 1 - 38 Stevi Xera