Full data view for gene MITF

Information The variants shown are described using the NM_000248.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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RNA change     

Review status     

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DNA change (genomic) (hg38)     

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dbSNP ID     

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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
+?/+ 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
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