PWRN1

Prader-Willi region non-protein coding RNA 1, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 15:24101827-24823365

Links

ENSG00000259905 ∙ NCBI:791114 ∙ OMIM:611215 ∙ HGNC:33235 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PWRN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PWRN1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			85	23	10	118
Total	0	0	85	23	10

Variants in PWRN1

This is a list of pathogenic ClinVar variants found in the PWRN1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-24675889-T-C		not specified	Uncertain significance (Sep 26, 2023)
15-24675898-G-C		not specified	Uncertain significance (Sep 25, 2023)
15-24675928-G-C		not specified	Uncertain significance (Jan 09, 2025)
15-24675936-C-T			Benign (Mar 30, 2018)
15-24675947-C-T		not specified	Uncertain significance (Mar 16, 2022)
15-24675955-C-T		not specified	Uncertain significance (Feb 02, 2022)
15-24675972-C-T		not specified	Likely benign (Dec 28, 2024)
15-24675976-C-T		not specified	Uncertain significance (Jan 11, 2023)
15-24675985-T-C		not specified	Likely benign (Jan 27, 2025)
15-24675998-C-G		not specified	Uncertain significance (Jun 02, 2023)
15-24676003-C-T			Likely benign (Sep 01, 2024)
15-24676033-C-T		not specified	Uncertain significance (Jul 16, 2024)
15-24676072-A-C		not specified	Uncertain significance (May 23, 2023)
15-24676111-C-G		not specified	Uncertain significance (May 31, 2023)
15-24676114-G-A		not specified	Uncertain significance (Sep 14, 2022)
15-24676145-C-T			Likely benign (Nov 01, 2023)
15-24676165-C-T			Benign (Apr 06, 2018)
15-24676176-G-C			Likely benign (Apr 03, 2018)
15-24676197-C-A		not specified	Uncertain significance (Aug 14, 2023)
15-24676219-C-T		not specified	Uncertain significance (May 25, 2022)
15-24676229-G-T		not specified	Uncertain significance (Jun 16, 2022)
15-24676231-A-T		not specified	Uncertain significance (Dec 08, 2023)
15-24676258-C-G		not specified	Uncertain significance (May 26, 2024)
15-24676268-C-A		not specified	Uncertain significance (May 16, 2022)
15-24676277-C-A		not specified	Uncertain significance (Jul 14, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Prader-Willi and Angelman Syndrome (Consensus)