Genomic variant #0000019695

Individual ID 00016917
Chromosome 7
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.6026708C>A
Reference -
DB-ID PMS2_000001 See all 55 reported entries
dbSNP ID rs63750668
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 0.00915
Allele Count 54
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.1688G>T r.(?) p.(Arg563Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000674 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou