Genomic variant #0000028916

Individual ID 00020468
Chromosome 9
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.21974851G>A
Reference -
DB-ID CDKN2A_000025 See all 2 reported entries
dbSNP ID rs144481587
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.-25C>T r.(=) p.(=)
CDKN2A NM_001195132.1 -/- - c.-25C>T r.(=) p.(=)
CDKN2A NM_058195.3 -/- - c.194-3644C>T r.(=) p.(=)
CDKN2A NM_058197.4 -/- - c.-25C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001552 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou