PRTFDC1

Chr 10

phosphoribosyl transferase domain containing 1

Also known as: HHGP

NCBI Gene: 56952ENSG00000099256UniProt: Q9NRG1OMIM: 610751

Enables protein homodimerization activity. Predicted to be involved in purine ribonucleoside salvage. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.69
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.69LOEUF
pLI 0.000
Z-score -0.56
OE 1.15 (0.79–1.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.44Z-score
OE missense 0.89 (0.77–1.04)
115 obs / 128.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.15 (0.79–1.69)
0≤0.351.4
Missense OE?0.89 (0.77–1.04)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 18 / 15.6Missense obs/exp: 115 / 128.9Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRTFDC1 · 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