Genomic variant #0000041423

Individual ID 00022032
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6036980G>C
Reference -
DB-ID PMS2_000112 See all 72 reported entries
dbSNP ID rs1805319
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 0.01898
Allele Count 112
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.780C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007529 DNA SEQ-NG-I 1 - 40 Stevi Xera