PRPF31-AS1

PRPF31 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:54119511-54125343

Links

ENSG00000237017 ∙ ∙ ∙ HGNC:40700 ∙ ∙ ∙ 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 PRPF31-AS1 gene.

• not provided (201 variants)
• Retinitis pigmentosa (42 variants)
• Retinal dystrophy (27 variants)
• Retinitis pigmentosa 11 (21 variants)
• Inborn genetic diseases (7 variants)
• not specified (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRPF31-AS1 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)				2		2
splice region						0
non coding	56	36	79	64	10	245
Total	56	36	79	66	10

Variants in PRPF31-AS1

This is a list of pathogenic ClinVar variants found in the PRPF31-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-54121843-C-A			Likely benign (Jun 08, 2022)
19-54121847-C-T		Retinitis pigmentosa	Benign (Jan 30, 2024)
19-54121848-G-A		Retinitis pigmentosa	Conflicting classifications of pathogenicity (Oct 03, 2023)
19-54121852-C-A			Likely benign (Aug 31, 2022)
19-54121852-CCTCA-C			Uncertain significance (Jun 01, 2016)
19-54121857-C-G			Uncertain significance (Jul 18, 2022)
19-54121858-A-G		Retinitis pigmentosa	Pathogenic/Likely pathogenic (Mar 02, 2022)
19-54121859-G-A		Retinal dystrophy • Retinitis pigmentosa 11	Pathogenic/Likely pathogenic (Oct 03, 2023)
19-54121859-G-C		Retinitis pigmentosa 11	Likely pathogenic (Feb 14, 2023)
19-54121859-G-T		Retinal dystrophy • Retinitis pigmentosa 11	Likely pathogenic (Oct 18, 2021)
19-54121865-G-T			Pathogenic (Oct 05, 2022)
19-54121865-GGA-G		Retinitis pigmentosa	Pathogenic (Jun 24, 2020)
19-54121868-C-G		Inborn genetic diseases	Uncertain significance (Dec 27, 2023)
19-54121872-T-C		Retinal dystrophy	Conflicting classifications of pathogenicity (Nov 28, 2023)
19-54121876-GGCCGC-G			Pathogenic (Jun 23, 2023)
19-54121876-GGCCGCGCCTGAAT-G			Pathogenic (Feb 03, 2023)
19-54121881-C-T			Uncertain significance (Aug 10, 2023)
19-54121882-G-A			Likely benign (Oct 03, 2023)
19-54121883-C-CCTGAATACCGCGT			Pathogenic (Feb 03, 2022)
19-54121886-G-T		Retinal dystrophy	Likely pathogenic (Oct 01, 2023)
19-54121886-GA-G		Retinitis pigmentosa 11	Likely pathogenic (Jul 22, 2020)
19-54121892-C-G		Inborn genetic diseases	Uncertain significance (Jun 05, 2024)
19-54121892-C-T		Inborn genetic diseases	Uncertain significance (Apr 03, 2023)
19-54121893-G-A		Retinal dystrophy	Uncertain significance (Oct 01, 2023)
19-54121895-G-A		Inborn genetic diseases	Uncertain significance (Feb 06, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP