Genomic variant #0000036276

Individual ID 00017988
Chromosome 9
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.21974859C>G
Reference -
DB-ID CDKN2A_000013 See all 10 reported entries
dbSNP ID rs531597737
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 0.00174
Allele Count 10
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.-33G>C r.(=) p.(=)
CDKN2A NM_001195132.1 -?/-? - c.-33G>C r.(=) p.(=)
CDKN2A NM_058195.3 -?/-? - c.194-3652G>C r.(=) p.(=)
CDKN2A NM_058197.4 -?/-? - c.-33G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002239 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou