Genomic variant #0000028593

Individual ID 00020447
Chromosome 9
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.21971188G>T
Reference -
DB-ID CDKN2A_000005 See all 4 reported entries
dbSNP ID rs372266620
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 0.0007
Allele Count 4
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.170C>A r.(?) p.(Ala57Asp)
CDKN2A NM_001195132.1 ?/? - c.170C>A r.(?) p.(Ala57Asp)
CDKN2A NM_058195.3 ?/? - c.213C>A r.(=) p.(=)
CDKN2A NM_058197.4 ?/? - c.*93C>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001522 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou