Genomic variant #0000010075

Individual ID 00016563
Chromosome 9
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.21974756C>G
Reference Jones et al (2007)  
DB-ID CDKN2A_000006
dbSNP ID rs104894097
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 5754
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDKN2A NM_000077.4 +/+ - c.71G>C r.(?) p.(Arg24Pro)
CDKN2A NM_001195132.1 +/+ - c.71G>C r.(?) p.(Arg24Pro)
CDKN2A NM_058195.3 +/+ - c.194-3549G>C r.(=) p.(=)
CDKN2A NM_058197.4 +/+ - c.71G>C r.(?) p.(Arg24Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000267 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou