Variant #0000010890 (NC_000012.12:g.12718241G>C, CDKN1B(NM_004064.5):c.402G>C)

Individual ID 00003767, 00005259
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.12718241G>C
Reference -
DB-ID CDKN1B_000007
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marcela Lopez-CEMAFE
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.402G>C p.(Lys134Asn) Hetero no r.? -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000004092 DNA SEQ-NG CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ABRAXAS1, ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2. 17-aug-2023 Multigenetic panel - 4 Marcela Lopez-CEMAFE
0000009443 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba APC CDK4 FANCM NF2 RB1 ATM CDKN1B FLCN PALB2 RET BARD1 CDKN2A KIT PMS1 SDHB BMPR1A CHEK2 MEN1 PMS2 SDHD BRCA1 DICER1 MLH1 POLD1 SMAD4 BRCA2 EPCAM MSH2 POLE STK11 BRIP1 FANCA MSH6 PTEN TP53 BUB1B FANCC MUTYH RAD50 VHL CDC73 FANCG NBN RAD51C CDH1 FANCD2 NF1 RAD51D 7-Aug-2025 Multigenetic panel - 2 Virginia Miretti-Hospital de Córdoba

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