Variant #0000009923 (NC_000016.10:g.23607918G>A, PALB2(NM_024675.4):c.3296C>T)

Individual ID 00002789
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.23607918G>A
Reference -
DB-ID PALB2_000027 See all 3 reported entries
dbSNP ID rs142132127
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nerina Anmuth-Sanatorio Parque
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
PALB2 NM_024675.4 ?/? 12 c.3296C>T p.(Thr1099Met) Hetero no r.(3296c>u) -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000003100 DNA SEQ-NG GENOS;Sistemas Genómicos ACD, AIP, AKT1, ALK, APC, AR, ATM, ATR, ATRX, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CSF3R, CTNNA1, DDB2, DICER1, DIS3L2, DKC1, DLST, EGLN1, EGLN2, ELANE, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GALNT12, GCM2, GDNF, GFI1, GPC3, GPR101, GREM1, HAX1, HNF1A, HNF1B, HOXB13, HRAS, IDH1, JAGN1, KIF1B, KIT, LZTR1, MAD2L2, MAX, MC1R, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NF2, NFIX, NHP2, NOP10, NSD1, NTHL1, PALB2, PARN, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRCC, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RFWD3, RNF139, RNF43, RPS20, RTEL1, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SRP54, STK11, SUFU, TERC, TERT, TGFBR2, TINF2, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL, VPS45, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3. 18-apr-2023 Multigenetic panel - 1 Nerina Anmuth-Sanatorio Parque

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There is an LOVD update available.