Genomic variant #0000039417

Individual ID 00020784
Chromosome 9
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.21971028C>T
Reference -
DB-ID CDKN2A_000011 See all 2 reported entries
dbSNP ID rs121913389
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 5754
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDKN2A NM_000077.4 +/+ - c.330G>A r.(?) p.(Trp110*)
CDKN2A NM_001195132.1 +/+ - c.330G>A r.(?) p.(Trp110*)
CDKN2A NM_058195.3 +/+ - c.373G>A r.(?) p.(Gly125Arg)
CDKN2A NM_058197.4 +/+ - c.*253G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006732 DNA SEQ 1 CDKN2A 1 Despoina Kalfakakou