Full data view for gene TERT

Information The variants shown are described using the NM_198253.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
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Cuadro familiar     
Panel size     
Owner     
?/? 3 c.1590G>A p.(=) Hetero TP53;CDKN2A r.(1590g>a) - Unknown g.1282608C>T - TERT_000001 - - DNA SEQ-NG 29-mar-2021 Invitae Invitae Multi-cancer panel (85 genes) Multigenetic panel -- Italian/Italian - - - 1 Cecilia Montes-IMGO
?/? 3 c.1590G>A p.(=) Hetero TP53 r.(1590g>a) - Unknown g.1282608C>T - TERT_000001 - - DNA SEQ 13-jul-2021 Invitae Analisis de variantes en TP53, TERT y CDKN2A (p16INK4a) Known familial mutation -- Italian/Italian - - - 1 Cecilia Montes-IMGO
?/? 3 c.1590G>A p.(=) Hetero no r.(1590g>a) - Unknown g.1282608C>T - TERT_000001 - - DNA SEQ 20-jul-2021 Invitae Analisis de variantes en TP53, TERT y CDKN2A (p16INK4a) Known familial mutation -- Italian/Italian - - - 1 Cecilia Montes-IMGO
?/? 4 c.1865G>A p.(Arg622His) Hetero no r.? - Unknown g.1280243C>T - TERT_000003 - - DNA SEQ-NG, CNV 03-jul-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 Spanish - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 14 c.3103G>A p.(Val1035Ile) Hetero CHEK2 r.? - Unknown g.1255341C>T - TERT_000002 rs374968697 - DNA SEQ-NG, CNV 19-apr-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 Breast cancer European - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
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