HIGD1C

Chr 12

HIG1 hypoxia inducible domain family member 1C

Also known as: GM921

NCBI Gene: 613227ENSG00000214511UniProt: A8MV81

Predicted to be involved in mitochondrial respirasome assembly. Predicted to act upstream of or within response to hypoxia. Predicted to be located in mitochondrial membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.81
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.81LOEUF
pLI 0.000
Z-score 0.00
OE 1.00 (0.51–1.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.03Z-score
OE missense 0.99 (0.78–1.26)
46 obs / 46.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.00 (0.51–1.81)
0≤0.351.4
Missense OE?0.99 (0.78–1.26)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 5 / 5.0Missense obs/exp: 46 / 46.5Syn Z: 0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HIGD1C · 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