Genomic variant #0000019037

Individual ID 00019981
Chromosome 19
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.1207131C>A
Reference -
DB-ID STK11_000024 See all 2 reported entries
dbSNP ID rs761825242
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 0.00035
Allele Count 2
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.219C>A r.(?) p.(Cys73*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000626 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou