PWRN3

Chr 15

Prader-Willi region non-protein coding RNA 3

168
ClinVar variants
152
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryPWRN3
📋
ClinVar Variants
152 Pathogenic / Likely Pathogenic· 5 VUS of 168 total submissions
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PWRN3?content-type=application/json&expand=1

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

168 submitted variants in ClinVar

Classification Summary

Pathogenic151
Likely Pathogenic1
VUS5
Likely Benign6
Benign5
151
Pathogenic
1
Likely Pathogenic
5
VUS
6
Likely Benign
5
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
151
Likely Pathogenic
1
VUS
5
Likely Benign
6
Benign
5
Total168

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PWRN3 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.