Genomic variant #0000027852

Individual ID 00020156
Chromosome 2
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.190742024A>G
Reference -
DB-ID PMS1_000018 See all 5 reported entries
dbSNP ID rs61748257
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 0.00087
Allele Count 5
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS1 NM_000534.4 -/- - c.2661A>G r.(=) p.(=)
PMS1 NM_001128143.1 -/- - c.2544A>G r.(=) p.(=)
PMS1 NM_001128144.1 -/- - c.2175A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001458 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou