PWAR1

Chr 15

Prader Willi/Angelman region RNA 1

Also known as: D15S227E, PAR-1, PAR1

NCBI Gene: 145624ENSG00000279050
312
ClinVar variants
308
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— PWAR1
📋
ClinVar Variants
308 Pathogenic / Likely Pathogenic· 4 VUS of 312 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

312 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic299
Likely Pathogenic9
VUS4
299
Pathogenic
9
Likely Pathogenic
4
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————299
Likely Pathogenic
————9
VUS
————4
Likely Benign
————0
Benign
————0
Total—312

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PWAR1 · 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

No open access results found

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