Full data view for gene LZTR1

Information The variants shown are described using the transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     
Exon     
AscendingDNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
Allele     
DNA change (genomic) (hg38)     
Reference     
DB-ID     
dbSNP ID     
Variant remarks     
Template     
Technique     
Date of test     
Lab     
Remarks     
Type of test     
Disease     
Ethnic origin     
Reference     
Remarks     
Cuadro familiar     
Panel size     
Owner     
?/? 5 c.410C>A p.(Thr137Asn) Hetero CHEK2 r.(410c>a) - Unknown g.20988019C>A - LZTR1_000006 rs146627447 - DNA CNV 18-oct-2023 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Breast cancer Italian - - Breast cancer 1 Guillermo Alberto-Instituto Fleming
+/+ 8i c.791+1G>A p.? Hetero N/A r.spl? - Unknown g.20990526G>A - LZTR1_000008 - - DNA SEQ-NG 07-feb-2024 Dasa Genómica - Genia Hereditary Cancer Panel (144 genes) AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DICER1, DIS3L2, DKC1, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GREM1, HDAC2, HNF1A, HOXB13, HRAS, IDUA, KIF1B, KIT, KMT2D, LZTR1, MAX, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2. Multigenetic panel Prostate cancer Italian - - Prostate cancer 1 Guillermo Alberto-Instituto Fleming
+?/+? 8i c.791+1G>T p.? Hetero no r.? - Unknown g.20990526G>T - LZTR1_000005 - - DNA SEQ-NG 19-dec-2023 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Breast cancer Breast cancer - - Breast cancer 1 Guillermo Alberto-Instituto Fleming
+?/+? 10i c.1149+1G>A p.? Hetero no r.spl? - Unknown g.20992370G>A - LZTR1_000001 - - DNA SEQ-NG 13-aug-2019 Héritas (deriv. Genos) Panel Neurofibromathosis (BRAF, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, KIT, KITLG, LZTR1, MAP2K1, MLH1, MSH2, MSH6, NF1, NF2, PALB2, PMS2, POLA1, PTPN11, RAD51C, RAF1, SLX4, SMARCB1, SMACE1, SPRED1, UBE2T) Multigenetic panel Schwanoma Polish-Ashkenazi-Argentinian - (antec personales/explica cuadro) Schwanomatosis 1 Lina Nuñez-Private Practice
?/? 12 c.1333G>A p.Val445Met Hetero no r.(1333g>a) - Unknown g.20993734G>A - LZTR1_000004 rs201070853 - DNA SEQ-NG 15-dec-2023 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Breast cancer Basque - Italian - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 14 c.1513C>T p.(Arg505Trp) Hetero no r.(1513c>u) - Unknown g.20994167C>T - LZTR1_000003 rs770974858 - DNA SEQ-NG, CNV 28-nov-2023 Dasa Genómica - Genia Hereditary cancer panel (144 genes) Multigenetic panel Melanoma Greek/Egypt - Italian/French - - Colon cancer, Melanoma 1 Pablo Kalfayan-Hospital Italiano
?/? 15 c.1750G>A p.(Glu584Lys) Hetero no r.(1750g>a) - Unknown g.20994692G>A - LZTR1_000007 rs369697241 - DNA SEQ-NG, CNV 20-feb-2024 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Breast cancer, Ovarian cancer unknown - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
+/? 21 c.2473_2477del p.(Ala825Profs*24) Hetero TP53 r.(2473_2477del) - Unknown g.20997298_20997302del - LZTR1_000002 - - DNA SEQ 01-jun-2022 CIBIC Analisis de variante conocida mediante sanger. NM_0000546.6:c.216_219dup, NP_000537.3:p.Ala74ArgfsTer76 TP53, NM_006767.4:c.2473_2477del, NP_006758.2:p.Ala825ProfsTer24 LZTR1 Specific pathology -- Italian/Spanish - - - 1 Norma Rossi - Fundacion Para el Progreso de la Medicina
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