Variant #0000008415 (NC_000016.10:g.23630140C>G, PALB2(NM_024675.3):c.2014G>C)

Individual ID 00001498
Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23630140C>G
Reference -
DB-ID PALB2_000006 See all 12 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 -?/- 5 c.2014G>C p.(Glu672Gln) Homo no r.(?) RECLASSIFIED NOVEMBER 2020



Screenings


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Owner     
0000001767 DNA CNV;SEQ-NG IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) 4-may-2020 Multigenetic panel - 40 Silvina Sisterna-Hospital de Comunidad