Variant #0000007483 (NC_000016.10:g.23607914A>C, PALB2(NM_024675.3):c.3300T>G)

Individual ID 00001072
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23607914A>C
Reference -
DB-ID PALB2_000005 See all 11 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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 ./-? 12 c.3300T>G p.(=) Not specified ATM r.(=) -



Screenings


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Owner     
0000001283 DNA CNV;SEQ-NG IACA - 4-oct-2019 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 24 Silvina Sisterna-Hospital de Comunidad