Full data view for gene MITF

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

10 entries on 1 page. Showing entries 1 - 10.
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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.394C>A (p.Gln132Lys) Hetero no r.? - Unknown g.69937861C>A - MITF_000002 rs201297175 - DNA SEQ-NG, CNV 21-jun-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 - Spanish - - Breast cancer 1 Nerina Anmuth-Sanatorio Parque
?/? 5 c.458A>G p.(Asn153Ser) Hetero no r.(?) - Unknown g.69949067A>G - MITF_000003 - - DNA SEQ-NG, CNV 01-jul-2024 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2. Multigenetic panel Breast cancer Spanish/French/Syrian lebanese - - Breast cancer 1 Guillermo Alberto-Instituto Fleming
?/? 5 c.560C>T p.Ala187Val Hetero no r.? - Unknown g.69951812C>T - chr3_000005 - - DNA SEQ-NG 13-Aug-2025 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 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, Thyroid cancer Spanish, Italian - - Breast cancer, Thyroid cancer 1 Guillermo Alberto-Instituto Fleming
?/? 4 c.626G>A p.(Cys209Tyr) Hetero no r.? - Unknown g.69951878G>A - MITF_000004 - - DNA SEQ-NG 12-aug-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 Italian-Spanish-French - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
+?/+ 9 c.952G>A p.(Glu318Lys) Hetero PALB2 r.(?) - Unknown g.69964940G>A - MITF_000001 - - DNA SEQ-NG 28-sep-2020 LACE ", Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.", Multigenetic panel -- Italian; Argentinian - - - 1 Cecilia Montes-IMGO
+?/+? 9 c.952G>A p.(Glu318Lys) Hetero no r.(952g>a) - Unknown g.69964940G>A - MITF_000001 - - DNA SEQ-NG 08-mar-2022 Color Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 Multigenetic panel Breast cancer Italian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
+?/+? 9 c.952G>A p.(Glu318Lys) Hetero no r.(?) - Unknown g.69964940G>A - MITF_000001 - - DNA SEQ-NG 18-oct-2022 GENDA, COLOR Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Multigenetic panel Breast cancer Spanish/Spanish - - Breast cancer, Ovarian cancer 1 Jesica Ramirez-Hospital Central de Mendoza
+?/+? 9 c.952G>A p.(Glu318Lys) Hetero PTEN r.(?) RISK FACTOR Unknown g.69964940G>A - MITF_000001 - - DNA SEQ-NG 11-nov-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 Armenian-Argentinean-Italian-Spanish - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
+?/+? 9 c.952G>A p.(Glu318Lys) Hetero no r.(?) RISK FACTOR Unknown g.69964940G>A - MITF_000001 - - DNA SEQ-NG 26-Mar-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary cancer, multigene NGS panel — Gene panel: 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 Colon cancer Italian-Spanish - - Colon cancer 1 Guillermo Alberto-Instituto Fleming
?/? 9 c.1024G>A p.(Asp342Asn) Hetero no r.? - Unknown g.69965012G>A - chr3_000004 - - DNA SEQ-NG 06/05/2025 Alexander Fleming ACD AIP AKT1 APC ATM BAP1 BARD1 BLM BRCA1 BRCA2 BRIP1 CASR CDC73 CDH1 CDK4 CDKN1B CDKN2A CHEK2 DICER1 EPCAM FANCA FANCC FANCL FANCM FH FLCN GALNT12 GREM1 HOXB13 KIT LZTR1 MAX MET MSH2 MSH3 MUTYH NBN NF2 NTHL1 PALB2 PMS2 POLD1 POLE POT1 PTEN RAD51B RAD51C RAD51D RB1 RET RINT1 SDHA SDHAF2 SDHB SDHC SDHD SMAD4 SMARCA4 SMARCB1 SPRED1 STK11 TERT TMEM127 TP53 TSC1 TSC2 VHL XRCC2 Multigenetic panel Breast cancer Italian - - Breast cancer 1 Guillermo Alberto-Instituto Fleming
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