MT-TC

Chr MT

tRNA-Cys

Also known as: MTTC

NCBI Gene: 4511 ENSG00000210140 OMIM: 590020

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · MTLimitednot for standalone diagnostic reporting

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P/LP submissions

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P/LP missense

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LOEUF

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GeneReview available — MT-TC

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MT-TC · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

Genomic variants and phenotypes in rare disease patients

📖

GeneReview available — MT-TC

Authoritative clinical overview · NCBI Bookshelf · Recommended first read

Open GeneReview ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Hereditary Amyloidosis, Transthyretin-Related

Phenotypic Manifestations of Hereditary ATTR Amyloidosis

NCT07124377Hospital 9 de Julio de Las BreñasStarted 2024-09-01

A complete physical examination of all body systems, including height and body weightNeurological examination includes motor strength testing; sensory testing with pinprick, light touch, temperature, and proprioception; deep tendon reflexes; and gait assessment.Electrocardiogram (12-lead ECG)

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

Genomic variants and phenotypes in rare disease patients