P3H2-AS1

P3H2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:190120219-190321535

Previous symbols: [ "LEPREL1-AS1" ]

Links

ENSG00000225764 ∙ NCBI:101929152 ∙ ∙ HGNC:40886 ∙ ∙ ∙ 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 P3H2-AS1 gene.

• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P3H2-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)						0
splice region						0
non coding				1	2	3
Total	0	0	0	1	2

Variants in P3H2-AS1

This is a list of pathogenic ClinVar variants found in the P3H2-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
3-190120229-G-T			Benign (Jun 29, 2018)
3-190120232-G-C			Likely benign (Nov 13, 2024)
3-190120232-G-T			Likely benign (Apr 24, 2023)
3-190120234-G-C			Likely benign (Jun 01, 2024)
3-190120236-A-T			Likely benign (Dec 12, 2024)
3-190120237-G-A			Likely benign (Jun 07, 2024)
3-190120237-G-C			Likely benign (Oct 05, 2022)
3-190120238-C-G			Likely benign (Aug 11, 2023)
3-190120238-C-T			Likely benign (Apr 25, 2024)
3-190120239-G-A			Likely benign (Nov 11, 2023)
3-190120239-G-C			Likely benign (Apr 24, 2024)
3-190120240-C-T			Likely benign (Dec 31, 2024)
3-190120243-T-C			Likely benign (Oct 23, 2022)
3-190120251-C-A			Likely pathogenic (Nov 08, 2022)
3-190120254-T-C			Uncertain significance (Mar 24, 2022)
3-190120255-G-C			Uncertain significance (Jun 13, 2023)
3-190120256-A-C			Uncertain significance (Aug 31, 2022)
3-190120257-T-G		Inborn genetic diseases	Uncertain significance (Apr 07, 2023)
3-190120265-C-G		Inborn genetic diseases • Myopia, high, with cataract and vitreoretinal degeneration	Uncertain significance (Feb 22, 2024)
3-190120268-T-C			Uncertain significance (Jun 24, 2020)
3-190120271-A-G			Uncertain significance (Dec 17, 2020)
3-190120273-G-A			Likely benign (Feb 03, 2025)
3-190120277-T-C			Uncertain significance (Nov 28, 2021)
3-190120279-G-C			Pathogenic (Nov 07, 2024)
3-190120281-A-G			Uncertain significance (Jun 10, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP