Variant #0000009088 (NC_000016.10:g.23623090_23623093del, PALB2(NM_024675.3):c.2872_2875del)

Individual ID 00001767
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.23623090_23623093del
Reference -
DB-ID PALB2_000036
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


Gene     

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Review status     
PALB2 NM_024675.3 +/. 9 c.2872_2875del p.(Gln958Tyrfs*3) Hetero no r.(?) -



Screenings


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Owner     
0000002047 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba "Panel cáncer hereditario (105 genes) AIP BRIP1 CEP57 ERCC4 FANCF HNF1A MUTYH POLD1 RB1 SDHD VHL ALK BUB1B CHEK2 ERCC5 FANCG HRAS NBN POLE RECQL4 SLX4 WRN APC CASR CYLD EXT1 FANCI KIT NF1 PPM1D RET SMAD4 WT1 ATM CDC73 DDB2 EXT2 FANCL MAX NF2 PRF1 RHBDF2 SMARCB1 XPA BAP1 CDH1 DICER1 EZH2 FANCM MEN1 NSD1 PRKAR1A RUNX1 STK11 XPC BARD1 CDK4 DIS3L2 FANCA FH MET PALB2 PTCH1 SBDS SUFU BLM CDKN1B EGFR FANCB FLCN MLH1 PDE4D PTEN SDHA TMEM127 BMPR1A CDKN1C EPCAM FANCC GATA2 MRE11 PHOX2B RAD50 SDHAF2 TP53 BRCA1 CDKN2A ERCC2 FANCD2 GNAS MSH2 PMS1 RAD51C SDHB TSC1 BRCA2 CEBPA ERCC3 FANCE GPC3 MSH6 PMS2 RAD51D SDHC TSC2" 02-sep-2019 Multigenetic panel - 2 Claudia Martin-Hospital de Córdoba