Variant #0000009202 (NC_000016.10:g.23622972C>T, PALB2(NM_024675.3):c.2993G>A)

Individual ID 00001793
Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23622972C>T
Reference -
DB-ID PALB2_000008 See all 10 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laura Vargas Roig-IMBECU
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     

AscendingTranscript     

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DNA change (cDNA)     

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Review status     
PALB2 NM_024675.3 -?/-? 9 c.2993G>A p.(Gly998Glu) Not specified BRCA2 r.(?) -



Screenings


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Owner     
0000002078 DNA SEQ-NG Biogenotec Panel Multigénico (21 genes) APC, ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN,NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 10-oct-2019 Multigenetic panel - 4 Laura Vargas Roig-IMBECU