Genomic variant #0000038160

Individual ID 00015387
Chromosome 10
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.89692940del
Reference -
DB-ID PTEN_000020
dbSNP ID rs869312779
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 5754
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PTEN NM_000314.4 +/+ - c.424del r.(?) p.(Arg142Glyfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005657 DNA SEQ-NG-I 1 - 2 Despoina Kalfakakou