Variant #0000009070 (NC_000016.10:g.23629936G>A, PALB2(NM_024675.3):c.2218C>T)

Individual ID 00001751
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23629936G>A
Reference -
DB-ID PALB2_000034 See all 6 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     

AscendingTranscript     

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DNA change (cDNA)     

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Review status     
PALB2 NM_024675.3 +/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     

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Owner     
0000002030 DNA SEQ-NG Genos/Color Panel GENOS (30 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 07-jan-2020 Multigenetic panel - 1 Luisina Bruno-Instituto Fleming