Full data view for gene CFTR

Information The variants shown are described using the NM_000492.4 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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     
?/? 3 c.224G>A p.Arg75Gln Hetero no r.(?) - Unknown g.? - PMS2_000065 - - DNA SEQ-NG, CNV 18-feb-2026 SENTIS ACVRL1 ALK APC ATM AXIN2 BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CDC73 CDH1 CDK12 CDK4 CDKN1B CDKN2A CFTR CHEK2 ENG EPAS1 EPCAM EXT1 EXT2 FANCC FANCG FH FLCN GALNT12 GREM1 KIT MAX MC1R MDH2 MEN1 MET MITF MLH1 MLH3 MRE11A MSH2 MSH3 MSH6 MSR1 MUTYH NBN NF1 NF2 NTHL1 NTRK1 PALB2 PDGFRA PHOX2B PMS1 PMS2 POLD1 POLE PRSS1 PTCH1 PTCH2 PTEN RAD50 RAD51C RAD51D RB1 RET RHBDF2 SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SPINK1 STK11 SUFU TMEM127 TP53 TSC1 TSC2 VHL WT1 XPC Multigenetic panel Breast cancer Italian, Argentinean, Paraguayan - - Hereditary breast and ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 21 c.3205G>A p.Gly1069Arg Hetero no r.? - Unknown g.117614450G>A - chr7_000002 - - DNA SEQ-NG 29-jan-2025 Fundación para el Progreso de la Medicina APC, ATM, BMPR1A, BRCA1, BRCA2, CASR, CDK4, CDKN2A, CEL, CFTR, CPA1, CTRC, EPCAM, MEN1, MLH1, MSH2, MSH6, PALB2, PMS2, PNLIP, PRSS1, SMAD4, SPINK1, STK11, TP53, TSC1, TSC2, VHL. ACMG SF 3.2 ACTA2, ACTC1, ACVRL1, APC, APOB, ATP7B, BAG3, BMPR1A, BRCA1, BRCA2, BTD, CACNA1S, CALM1, CALM2, CALM3, CASQ2, COL3A1, DES, DSC2, DSG2, DSP, ENG, FBN1, FLNC, GAA, GLA, HFE, HNF1A, KCNH2, KCNQ1, LDLR, LMNA, MAX, MEN1, MLH1, MSH2, MSH6, MUTYH, MYBPC3, MYH11, MYH7, MYL2, MYL3, NF2, OTC, PALB2, PCSK9, PKP2, PMS2, PRKAG2, PTEN, RB1, RBM20, RET, RPE65, RYR1, RYR2, SCN5A, SDHAF2, SDHB, SDHC, SDHD, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, TMEM127, TMEM43, TNNC1, TNNI3, TNNT2, TP53, TPM1, TRDN, TSC1, TSC2, TTN, TTR, VHL, WT1. Whole exome N/A Italian-Unknown / Italian-Unknown - - Pancreatic cancer 1 Norma Rossi - Sanatorio Allende
+/+ 21 c.3454G>C p.(Asp1152His) Hetero no r.(?) - Unknown g.117614699G>C - CFTR_000001 rs75541969 - DNA SEQ-NG 18-jun-2024 GENOS, SENTIS Hereditary Cancer Panel (90 genes) Multigenetic panel Hodgkin lymphoma, Pancreatic cancer Russian/Italian - - Breast cancer, Colon cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 21i c.3873+20C>T p.? Hetero no r.(?) - Unknown g.117642613C>T - chr7_000021 - - DNA SEQ-NG, CNV 26-aug-2025 SENTIS ALK, APC, ATM, ATR, AXIN2, ACVRL1, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN2A, CHEK2, CFTR, EPCAM, EXT1, EXT2, ENG, EPAS1, ABRAXAS1, FANCA, FANCC, FH, FLCN, FANCG, GALNT12, GEN1, GREM1, HOXB13, KIT, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, MCM8, MCM9, MRE11, MSH3, NBN, NF1, NF2, NTHL1, PIK3CA, POLD1, POLE, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SPINK1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPC Multigenetic panel Prostate cancer Portuguese, Italian - - Hereditary prostate cancer 1 Guillermo Alberto-Instituto Fleming
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