Variant #0000009100 (NC_000016.10:g.23634893A>T, PALB2(NM_024675.3):c.1653T>A)

Individual ID 00001772
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23634893A>T
Reference -
DB-ID PALB2_000001 See all 40 reported entries
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
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Variant on transcripts


Gene     

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PALB2 NM_024675.3 +/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) -



Screenings


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Owner     
0000002052 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP55 29-jul-2021 Multigenetic panel - 1 Claudia Martin-Hospital de Córdoba