Variant #0000011807 (NC_000009.12:g.21974675del, CDKN2A(NM_000077.5):c.150+5del)

Individual ID 00005153
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.21974675del
Reference -
DB-ID CDKN2A_000014
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Luisina Bruno-Instituto Fleming
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
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DNA change (cDNA)     
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RNA change     
Review status     
CDKN2A NM_000077.5 ?/? 1i c.150+5del p.? Hetero no r.(?) -



Screenings


AscendingScreening ID     
Template     
Technique     
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Date of test     
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Variants found     
Owner     
0000009337 DNA SEQ-NG GENDA GENDA Hereditary Cancer Panel – 88 genes – Genes included in the panel: ABRAXAS1, AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FANCC, FH, FLCN, GALNT12, GREM1, HNF1B, HOXB13, KIT, LZTR1, MAX, MBD4, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS1, PMS2, POLD1, POLE, POT1, PRKAR1A, PRSS1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TGFBR2, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XRCC2, XRCC3 13-jun-2025 Multigenetic panel - 2 Luisina Bruno-Instituto Fleming

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