Variant #0000011071 (NC_000012.12:g.12718165T>A, CDKN1B(NM_004064.5):c.326T>A)

Individual ID 00003957
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.12718165T>A
Reference -
DB-ID CDKN1B_000010
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital de Córdoba
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     
Exon     
DNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
CDKN1B NM_004064.5 ?/? 1 c.326T>A p.(Val109Asp) Hetero no r.? -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000004291 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba AIP, ALK, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GNAS, GPC3, HNF1A, HRAS, KIT, MAX, MEN1, MET, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PDE4D, PHOX2B, PMS1, PMS2, POLD1, POLE, PPM1D, PRF1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC 23-Aug-2024 Multigenetic panel - 1 Claudia Martin-Hospital de Córdoba

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