Genomic variant #0000020126

Individual ID 00020058
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.190718999C>T
Reference -
DB-ID PMS1_000011 See all 14 reported entries
dbSNP ID rs147084726
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 0.00243
Allele Count 14
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.1001C>T r.(?) p.(Thr334Met)
PMS1 NM_001128143.1 ?/? - c.884C>T r.(?) p.(Thr295Met)
PMS1 NM_001128144.1 ?/? - c.1001C>T r.(?) p.(Thr334Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000708 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou