We are using technical cookies that are necessary for page to work correctly.
Variants & Diseases- T-psi-C database
- m.3243A>G, MT-TL1 (mt-tRNA^Leu(UUR)), MELAS; also MIDD
- m.8344A>G, MT-TK (mt-tRNA^Lys), MERRF
- m.3271T>C, MT-TL1, MELAS
- m.3303C>T, MT-TL1, Maternally inherited cardiomyopathy / myopathy
- m.4295A>G, MT-TI (mt-tRNA^Ile), Hypertrophic cardiomyopathy
- m.4269A>G, MT-TI, Multisystem mitochondrial disease with progressive/dilated cardiomyopathy
- m.7512T>C, MT-TS1 (mt-tRNA^Ser(UCN)), MERRF/MELAS overlap; hearing loss may occur
- m.7445A>G, MT-TS1, Maternally inherited sensorineural deafness; later palmoplantar keratoderma association
- m.7472insC, MT-TS1, Hearing loss with neurological dysfunction / ataxia / myoclonus
- m.12258C>A, MT-TS2 (mt-tRNA^Ser(AGY)), Mitochondrial diabetes; retinitis pigmentosa with progressive sensorineural hearing loss
- m.5650G>A, MT-TA (mt-tRNA^Ala), Mitochondrial myopathy
- m.12315G>A, MT-TL2 (mt-tRNA^Leu(CUN)), Mitochondrial encephalomyopathy with CPEO, ptosis, pigmentary retinopathy and hearing loss
- m.5703G>A, MT-TN (mt-tRNA^Asn), Mitochondrial myopathy / isolated ophthalmoplegia
- m.14709T>C, MT-TE (mt-tRNA^Glu), Mitochondrial myopathy and diabetes; MIDD-like presentations
- C50T, Arg-UCU-4-1, neurodegenaration
- C65G, Sec-TCA, Euthyroid hyperthyroxinemia; selenium deficiency (only homozygous mutations)
- Glu-UUC; Arg-CCG, metastatic breast cancer
- Ile-UAU, metastatic breast cancer
- Leu-CAG; Leu-UAG; Leu-AAG, breast cancer
- Val-AAC, Val-UAC, Val_CAC, T-cell acute lymphoblastic leukaemia
- Val-AAC, Val-UAC, Val_CAC, melanoma
