Variant #0000009112 (NC_000016.10:g.23635650G>A, PALB2(NM_024675.3):c.896C>T)

Individual ID 00001782
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.23635650G>A
Reference -
DB-ID PALB2_000037
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jose Llugdar-IMOC
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     

AscendingTranscript     

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DNA change (cDNA)     

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Review status     
PALB2 NM_024675.3 ?/? 4 c.896C>T p.(Ser299Phe) Hetero no r.(?) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000002062 DNA SEQ-NG Héritas Panel cáncer hereditario (28 genes) ATM,BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NF1, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL4, RINT, SMARCA4, STK11, TP53, XRCC2 03-aug-2021 Multigenetic panel - 2 Jose Llugdar-IMOC