HGH1
Chr 8HGH1 cochaperone
Also known as: BRP16, BRP16L, C8orf30A, C8orf30B, FAM203A, FAM203B
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.69LOEUF
pLI 0.012
Z-score 0.51
OE 0.73 (0.33–1.69)
Highly tolerant — LoF variants common in population
Missense Constraint?
-0.32Z-score
OE missense 1.17 (0.89–1.55)
34 obs / 29.1 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.73 (0.33–1.69)
0≤0.351.4
Missense OE?1.17 (0.89–1.55)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 3 / 4.1Missense obs/exp: 34 / 29.1Syn Z: 0.17
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HGH1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools