RFPL1S

Chr 22

RFPL1 antisense RNA 1

Also known as: NCRNA00006, RFPL1-AS, RFPL1-AS1, RFPL1AS

NCBI Gene: 10740ENSG00000225465
88
ClinVar variants
28
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— RFPL1S
📋
ClinVar Variants
28 Pathogenic / Likely Pathogenic· 55 VUS of 88 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

88 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic1
VUS55
Likely Benign3
27
Pathogenic
1
Likely Pathogenic
55
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
27
0
27
Likely Pathogenic
0
0
1
0
1
VUS
0
52
3
0
55
Likely Benign
0
3
0
0
3
Benign
0
0
0
0
0
Total05531086

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RFPL1S · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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