Variant #0000010844 (NC_000012.12:g.12718122C>T, CDKN1B(NM_004064.5):c.283C>T)

Individual ID 00003711
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.12718122C>T
Reference -
DB-ID CDKN1B_000006
dbSNP ID rs188579132
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marcela Lopez - Instituto Donna
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

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Review status     
CDKN1B NM_004064.5 ?/? 1 c.283C>T p.(Pro95Ser) Hetero no r.? -



Screenings


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Owner     
0000004034 DNA SEQ-NG CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MSH3, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. 25-sep-2024 Multigenetic panel - 1 Marcela Lopez - Instituto Donna