Genomic variant #0000001085

Individual ID 00021048
Chromosome 2
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.190718671C>T
Reference -
DB-ID PMS1_000006
dbSNP ID rs768246348
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 0.00017
Allele Count 1
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.829C>T r.(?) p.(Arg277*)
PMS1 NM_001128143.1 +/+ - c.712C>T r.(?) p.(Arg238*)
PMS1 NM_001128144.1 +/+ - c.829C>T r.(?) p.(Arg277*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000028 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou