Genomic variant #0000039191

Individual ID 00021432
Chromosome 7
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.6017308G>T
Reference -
DB-ID PMS2_000013 See all 8 reported entries
dbSNP ID rs576055272
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00136
Allele Count 8
Allele Number 5902
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 -/- - c.2356C>A r.(?) p.(Leu786Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006946 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou