TRMT10C

Chr 3AR

tRNA methyltransferase 10C, mitochondrial RNase P subunit

Also known as: COXPD30, HNYA, MRPP1, RG9MTD1

This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5' processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Combined oxidative phosphorylation deficiency 30MIM #616974
AR

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARModerateconsider for supplementary testing
0
Active trials
21
Pubs (1 yr)
P/LP submissions
P/LP missense
1.14
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.14LOEUF
pLI 0.000
Z-score 1.22
OE 0.63 (0.371.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.77Z-score
OE missense 0.85 (0.750.96)
174 obs / 205.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.371.14)
00.351.4
Missense OE?0.85 (0.750.96)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 8 / 12.7Missense obs/exp: 174 / 205.0Syn Z: 0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TRMT10C · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →