Variant #0000009069 (NC_000016.10:g.23641151C>A, PALB2(NM_024675.3):c.7G>T)

Individual ID 00001750
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23641151C>A
Reference -
DB-ID PALB2_000003 See all 3 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Luisina Bruno-Instituto Fleming
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 +/+ 1 c.7G>T p.(Glu3*) Hetero N/A r.(?) -



Screenings


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Owner     
0000002029 DNA SEQ-NG Genesia - Progenitest;Instituto Alexander Fleming;INVITAE Panel de cáncer de mama y Ginecológico + un gen puntual (24 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53 21-jan-2020 Multigenetic panel - 1 Luisina Bruno-Instituto Fleming