Variant #0000009154 (NC_000016.10:g.23635354del, PALB2(NM_024675.3):c.1192del)

Individual ID 00001821
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23635354del
Reference -
DB-ID PALB2_000038 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital de Córdoba
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


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PALB2 NM_024675.3 +/+ 4 c.1192del p.(Val398Cysfs*26) Hetero N/A r.(?) -



Screenings


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Owner     
0000002106 DNA SEQ-NG IACA Panel IACA (22 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICERN, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53. 07-jul-2021 Multigenetic panel - 1 Claudia Martin-Hospital de Córdoba