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MIMS1

Chr 18AR

mitochondrial inner membrane scaffold 1

Also known as: C18orf19, FAM210A, HsT2329, SEMDTSED

NCBI Gene: 125228UniProt: Q96ND0OMIM: 617975

Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasiaMIM #621650
AR
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
—
LOEUF
—
Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/MIMS1?content-type=application/json

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MIMS1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients