Genomic variant #0000043228

Individual ID 00022084
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.6026775T>C
Reference -
DB-ID PMS2_000113 See all 73 reported entries
dbSNP ID rs2228006
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 0.02067
Allele Count 122
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.1621A>G r.(?) p.(Lys541Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007582 DNA SEQ-NG-I 1 - 45 Stevi Xera