Previous symbols: MTRNR1. Aliases: 12S, MOTS-c.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Aminoglycoside-Induced Hearing Loss | causative |
mechanism: Predisposing MT-RNR1 Variants
|
| Parkinson Disease, Mitochondrial |
untyped
A novel heteroplasmic, maternally inherited point mutation (m.T1095C) in the mitochondrially encoded 12S rRNA gene MT-RNR1. Secondary-structure modeling predicts disruption of a highly conserved small-subunit rRNA loop important for the initiation of mitochondrial protein synthesis, producing an oxidative phosphorylation defect. The variant was absent from 270 ethnically diverse controls, supporting pathogenicity.
|
mechanism: MT-RNR1 m.T1095C Impairs Mitochondrial Translation
scoped to subtype: MT-RNR1 m.T1095C
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| mitochondrial disease MONDO:0044970 | MT | Definitive 2024-03-04 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.