RPL7L1

Chr 6

ribosomal protein L7 like 1

Also known as: dJ475N16.4

NCBI Gene: 285855ENSG00000146223UniProt: Q6DKI1

Enables RNA binding activity. Predicted to be involved in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to act upstream of or within blastocyst formation. Located 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
1.05
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?
1.05LOEUF
pLI 0.000
Z-score 1.43
OE 0.58 (0.34–1.05)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.40Z-score
OE missense 1.09 (0.96–1.25)
157 obs / 143.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.58 (0.34–1.05)
0≤0.351.4
Missense OE?1.09 (0.96–1.25)
0≤0.61.4
Synonymous OE?1.21
0≤1.21.6
LoF obs/exp: 8 / 13.7Missense obs/exp: 157 / 143.6Syn Z: -1.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RPL7L1 · 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