Variant #0000009136 (NC_000016.10:g.23629818G>C, PALB2(NM_024675.3):c.2336C>G)

Individual ID 00001804
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23629818G>C
Reference -
DB-ID PALB2_000025 See all 4 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Maria Constanza Vallone-Hospital Austral
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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DNA change (cDNA)     

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Review status     
PALB2 NM_024675.3 +/+ 5 c.2336C>G p.(Ser779*) Hetero N/A r.(?) -



Screenings


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Owner     
0000002089 DNA SEQ-NG Color Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 28-jan-2021 Multigenetic panel - 2 Maria Constanza Vallone-Hospital Austral