Genomic variant #0000034445

Individual ID 00017920
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.190742047A>G
Reference -
DB-ID PMS1_000054
dbSNP ID rs746934898
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 0.00024
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS1 NM_000534.4 ?/? - c.2684A>G r.(?) p.(Glu895Gly)
PMS1 NM_001128143.1 ?/? - c.2567A>G r.(?) p.(Glu856Gly)
PMS1 NM_001128144.1 ?/? - c.2198A>G r.(?) p.(Glu733Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002054 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou