Genomic variant #0000041111

Individual ID 00020031
Chromosome 7
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_6012870)_(6013174_6017218)del
Reference -
DB-ID PMS2_000111
dbSNP ID -
Variant remarks Deletion extending 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates.
HGVS description is probe-based.
Genetic origin Germline
Segregation -
Also Known As PMS2 exon 15 deletion
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 5754
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 +/+ 15 c.(?) r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007511 DNA MLPA 1 PMS2 1 Despoina Kalfakakou