Genomic variant #0000037448

Individual ID 00019519
Chromosome 19
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.1221267_1221270del
Reference Fostira et al (2018)
DB-ID STK11_000056 See all 2 reported entries
dbSNP ID rs121913320
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 5770
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STK11 NM_000455.4 +/+ - c.790_793del r.(?) p.(Phe264Argfs*22)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005251 DNA SEQ 0 STK11 1 Despoina Kalfakakou