Variant #0000012043 (NC_000005.10:g.(?_132609117)_(132618294_?)dup, RAD50(NM_005732.4):Duplication)

Individual ID 00005837
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.(?_132609117)_(132618294_?)dup
Reference -
DB-ID RAD50_000034
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi - Sanatorio Allende
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     
RAD50 NM_005732.4 ?/? 19_20 Duplication p.? Hetero no r.? -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000010035 DNA SEQ-NG Sanatorio Allende ABRAXAS1, ACD, AIP, AKT1, ALK, ANKRD26, APC, APOA1, APOA2, ARID1A, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BTK, BUB1B, CARD11, CASP10, CASR, CBL, CD27, CD40LG, CD70, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CSF3R, CST3, CTLA4, CTNNA1, CTPS1, CYLD, DDB2, DDX41, DICER1, DIS3, DIS3L2, DKC1, DOCK8, EGFR, ELANE, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ETV6, EXT1, EXT2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FGA, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, GSN, HOXB13, HRAS, IKZF1, ITK, JAK2, KDM1A, KIT, LYZ, LZTR1, MAGT1, MAX, MBD4, MECOM, MEN1, MET, MITF, MLH1, MPL, MRE11, MRTFA, MSH2, MSH3, MSH6, MTAP, MUTYH, NAF1, NBN, NF1, NF2, NPAT, NPM1, NSD1, NTHL1, PALB2, PAX5, PDGFRA, PGM3, PHOX2B, PIK3CD, PMS2(93.33%), POLD1, POLE, POLH, POT1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, PTPN11, PTPRJ, RAD50, RAD51C, RAD51D, RASGRP1, RB1, RBBP6, RBM8A, RECQL4, RET, RHBDF2, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SH2B3, SLTM, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, SRP72, STAT3, STK11, SUFU, TERF2IP, TERT, TET2, TGFBR1, TMEM127, TNFRSF9, TP53, TSC1, TSC2, TTR, UNC13D, USP45, VHL, WAS, WRN, WT1, XPA, XPC, XRCC2, ZNF43(90.0%). 19-feb-2026 Multigenetic panel - 1 Norma Rossi - Sanatorio Allende

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