Genomic variant #0000043575

Individual ID 00022094
Chromosome 7
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6013049C>G
Reference -
DB-ID PMS2_000115 See all 29 reported entries
dbSNP ID rs1802683
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 0.00525
Allele Count 31
Allele Number 5902
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ./. - c.2570G>C r.(?) p.(Gly857Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007592 DNA SEQ-NG-I 1 - 48 Stevi Xera