Genomic variant #0000027966

Individual ID 00020218
Chromosome 2
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.190660533C>T
Reference -
DB-ID PMS1_000020 See all 4 reported entries
dbSNP ID rs756254396
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 0.0007
Allele Count 4
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.171C>T r.(=) p.(=)
PMS1 NM_001128143.1 ?/? - c.171C>T r.(=) p.(=)
PMS1 NM_001128144.1 ?/? - c.171C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001468 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou