Full data view for gene FANCI

Information The variants shown are described using the NM_001113378.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     
Exon     
AscendingDNA change (cDNA)     
Protein     
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Allele     
DNA change (genomic) (hg38)     
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dbSNP ID     
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Template     
Technique     
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Owner     
?/? 36i c.3816+6C>T p.(?) Hetero PALB2 r.(?) - Unknown g. - FANCI_000001 - - DNA SEQ-NG 02-sep-2019 Hospital Privado Centro Médico de Córdoba ", Panel cáncer hereditario (105 genes) AIP BRIP1 CEP57 ERCC4 FANCF HNF1A MUTYH POLD1 RB1 SDHD VHL ALK BUB1B CHEK2 ERCC5 FANCG HRAS NBN POLE RECQL4 SLX4 WRN APC CASR CYLD EXT1 FANCI KIT NF1 PPM1D RET SMAD4 WT1 ATM CDC73 DDB2 EXT2 FANCL MAX NF2 PRF1 RHBDF2 SMARCB1 XPA BAP1 CDH1 DICER1 EZH2 FANCM MEN1 NSD1 PRKAR1A RUNX1 STK11 XPC BARD1 CDK4 DIS3L2 FANCA FH MET PALB2 PTCH1 SBDS SUFU BLM CDKN1B EGFR FANCB FLCN MLH1 PDE4D PTEN SDHA TMEM127 BMPR1A CDKN1C EPCAM FANCC GATA2 MRE11 PHOX2B RAD50 SDHAF2 TP53 BRCA1 CDKN2A ERCC2 FANCD2 GNAS MSH2 PMS1 RAD51C SDHB TSC1 BRCA2 CEBPA ERCC3 FANCE GPC3 MSH6 PMS2 RAD51D SDHC TSC2", Multigenetic panel Pancreatic cancer Unknown - - Pancreatic cancer 1 Claudia Martin-Hospital de Córdoba
?/? 9 c.706T>C p.(Phe236Leu) Hetero no r.? - Unknown g.89264558T>C - FANCI_000005 rs1356319036 - DNA SEQ-NG 25-mar-2024 Dasa Genómica - Genia Hereditary Cancer Panel (GeneOne) 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 Kidney cancer Italian - - Kidney cancer 1 Guillermo Alberto-Instituto Fleming
?/? 11 c.938T>C p.(Leu313Pro) Hetero no r.? - Unknown g.89273432T>C - FANCI_000006 - - DNA SEQ-NG 13-mar-2024 Dasa Genómica - Genia Hereditary Cancer Panel (GeneOne) 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 Ovarian cancer Paraguayan - - Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 18 c.1814T>C p.Leu605Pro Hetero no r.? - Unknown g.89285211T>C - FANCI_000007 - - DNA SEQ-NG 19-mar-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 Bilateral Breast cancer Italian - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 19 c.1856T>A p.(Leu619Gln) Hetero no r.? - Unknown g.89290247T>A - FANCI_000004 rs151038616 - DNA SEQ-NG 29-apr-2024 ARGENETICS ABRAXAS1, AIP, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, DICER1, DIS3L2, EPCAM, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XRCC2 Multigenetic panel Breast cancer jew (Ashkenazi) - - Breast cancer 1 Guillermo Alberto-Instituto Fleming
?/? 23 c.2393A>G p.(Asn798Ser) Hetero no r.? - Unknown g.89293934A>G - FANCI_000009 rs548409550 - DNA SEQ-NG, CNV 01-dec-2023 Hospital Alemán ABRAXAS1, AIP, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, DICER1, DIS3L2, EPCAM, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XRCC2 Multigenetic panel Colon cancer Italian/Italian - - Colon cancer 1 Maria Laura Gonzalez-Hospital Italiano
?/-? 24 c.2629A>T p.(Ile877Leu) Hetero NF1 r.(2629a>u) - Unknown g.89295087A>T - FANCI_000002 - - DNA SEQ-NG 23-03-22 Hospital Privado Centro Médico de Córdoba Panel (105 genes) Multigenetic panel -- Unknown - - - 1 Virginia Miretti-Hospital de Córdoba
?/? 26 c.2992C>T p.Pro998Ser Hetero no r.(2992c>u) - Unknown g.89301428C>T - FANCI_000003 rs182154506 - DNA SEQ-NG, CNV 10-jul-2023 Dasa Genómica - Genia Hereditary cancer panel (144 genes) with CNV analysis. Multigenetic panel Melanoma Italian/Italian - - Kidney cancer, Melanoma, Pancreatic cancer 1 Pablo Kalfayan-Hospital Italiano
?/? 32 c.3355G>A p.(Ala1119Thr) Hetero no r.? - Unknown g.89306012G>A - FANCI_000008 - - DNA SEQ-NG, CNV 17-apr-2024 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ABRAXAS1, ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2. Multigenetic panel Colorectal cancer German/Syrian - - Breast cancer,Colorectal cancer, Lymphoma 1 Guillermo Alberto-Instituto Fleming
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