Variant #0000005717 (NC_000016.10:g.23635536A>G, PALB2(NM_024675.3):c.1010T>C)

Individual ID 00000796
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.23635536A>G
Reference -
DB-ID PALB2_000014 See all 4 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi-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


Gene     

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PALB2 NM_024675.3 ?/-? 4 c.1010T>C p.(Leu337Ser) Hetero BRCA1 r.(?) -



Screenings


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Owner     
0000000924 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba Panel breast&ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) 12-nov-2018 Multigenetic panel - 3 Norma Rossi-Hospital de Córdoba