Variant #0000009522 (NC_000017.11:g.39531110G>A, CDK12(NM_016507.4):c.4267G>A)

Individual ID 00002054
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.39531110G>A
Reference -
DB-ID CDK12_000001
dbSNP ID rs201512860
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan - Consultorio Particular.
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     
CDK12 NM_016507.4 ?/? 14 c.4267G>A p.Ala1423Thr Hetero BRCA2 r.(4267g>a) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000002341 DNA SEQ-NG IACA Panel HRR de AmoyDx (32 genes) AR, ATM, ATR, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CHEK1, CHEK2, ESR1, FANCA, FANCL, HDAC2, HOXB13, MRE11, NBN, PALB2, PPP2R2A, PTEN, RAD51B, RAD51C, RAD51D, RAD54L, STK11, TP53, BRAF, ERBB2, KRAS, NRAS, PIK3CA 30-nov-2021 Multigenetic panel - 2 Pablo Kalfayan - Consultorio Particular.