Variant #0000009317 (NC_000016.10:g.23629936G>A, PALB2(NM_024675.3):c.2218C>T)

Individual ID 00001974
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 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 +/+ 5 c.2218C>T p.(Gln740*) Hetero N/A r.(2218c>u) -



Screenings


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Owner     
0000002261 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba Panel Cancer mama-Ovario (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 04-may-2022 Multigenetic panel - 1 Claudia Martin-Hospital de Córdoba