HCG27

Chr 6

HLA complex group 27

Also known as: bCX101P6.9, bPG299F13.9, bQB115I13.2

NCBI Gene: 253018ENSG00000206344

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.89
LOEUF
—
Mechanism
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?
1.89LOEUF
pLI 0.023
Z-score -0.10
OE 1.08 (0.38–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.30Z-score
OE missense 0.64 (0.52–0.79)
66 obs / 103.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.08 (0.38–1.89)
0≤0.351.4
Missense OE?0.64 (0.52–0.79)
0≤0.61.4
Synonymous OE?0.58
0≤1.21.6
LoF obs/exp: 2 / 1.9Missense obs/exp: 66 / 103.1Syn Z: 2.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HCG27 · 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