Variant #0000009007 (NC_000016.10:g.23635306G>A, PALB2(NM_024675.3):c.1240C>T)

Individual ID 00001679
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23635306G>A
Reference -
DB-ID PALB2_000031 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Alejandra Mampel-COIR
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     
PALB2 NM_024675.3 +/+ 4 c.1240C>T p.(Arg414*) Hetero P53 r.(?) -



Screenings


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Owner     
0000001954 DNA SEQ-NG Biogenotec Panel Cáncer de mama y ovario DE 14 GENES (ATM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, MSH6, NBN,PALB2, PMS2, PTEN, STK11, TP53) 29-oct-2020 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, STK11, TP53 2 Alejandra Mampel-COIR