PLXNB3-AS1

PLXNB3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): X:153735626-153766488

Links

ENSG00000232725 ∙ NCBI:102723591 ∙ ∙ HGNC:40454 ∙ ∙ ∙ 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 PLXNB3-AS1 gene.

• Adrenoleukodystrophy (578 variants)
• not provided (173 variants)
• Inborn genetic diseases (41 variants)
• not specified (29 variants)
• ABCD1-related condition (12 variants)
• Primary adrenocortical insufficiency (2 variants)
• X-linked cerebral adrenoleukodystrophy (1 variants)
• X-linked spondyloepimetaphyseal dysplasia (1 variants)
• Encephalitis;Episodic vomiting;Myocarditis;Recurrent fever (1 variants)
• - (1 variants)
• See cases (1 variants)
• Abnormality of the nervous system (1 variants)
• History of neurodevelopmental disorder (1 variants)
• Spastic paraplegia;Spastic gait (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLXNB3-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	98	91	219	223	44	675
Total	98	91	219	223	44

Highest pathogenic variant AF is 0.00000890

Variants in PLXNB3-AS1

This is a list of pathogenic ClinVar variants found in the PLXNB3-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
X-153736079-C-A		not specified	Uncertain significance (Jan 23, 2019)
X-153736089-C-G			Uncertain significance (Dec 08, 2020)
X-153736092-A-C		Adrenoleukodystrophy	Likely benign (Nov 29, 2023)
X-153736092-A-G		Adrenoleukodystrophy	Likely benign (Nov 08, 2023)
X-153736093-C-G		Adrenoleukodystrophy	Benign (Jan 29, 2024)
X-153736093-C-T		Adrenoleukodystrophy	Likely benign (Dec 12, 2023)
X-153736096-C-T		Adrenoleukodystrophy	Likely benign (Dec 22, 2020)
X-153736097-T-A		Adrenoleukodystrophy	Likely benign (Sep 08, 2023)
X-153736097-T-C		Adrenoleukodystrophy	Likely benign (Dec 12, 2023)
X-153736097-T-G		Adrenoleukodystrophy	Likely benign (Aug 02, 2023)
X-153736099-T-C		Adrenoleukodystrophy	Likely benign (Oct 03, 2023)
X-153736099-T-G		Adrenoleukodystrophy	Likely benign (Nov 29, 2023)
X-153736100-G-A		Adrenoleukodystrophy	Uncertain significance (Aug 23, 2022)
X-153736104-C-T		Adrenoleukodystrophy	Likely benign (Nov 17, 2023)
X-153736105-T-G		Adrenoleukodystrophy	Likely benign (Jan 10, 2023)
X-153736108-G-A		Adrenoleukodystrophy	Likely benign (May 26, 2021)
X-153736111-G-A		Adrenoleukodystrophy	Likely pathogenic (Feb 03, 2022)
X-153736112-A-G		Adrenoleukodystrophy	Uncertain significance (Jan 08, 2024)
X-153736113-T-C		Adrenoleukodystrophy	Likely benign (Jun 15, 2022)
X-153736119-G-A		Adrenoleukodystrophy	Likely benign (Nov 27, 2023)
X-153736121-C-G		Adrenoleukodystrophy	Uncertain significance (Nov 27, 2023)
X-153736121-CCGTGAAGAAGG-C		Abnormality of the nervous system	Likely pathogenic (Jul 10, 2021)
X-153736122-C-G		Adrenoleukodystrophy	Conflicting classifications of pathogenicity (Sep 22, 2023)
X-153736122-C-T		Adrenoleukodystrophy	Likely benign (Jan 19, 2024)
X-153736123-G-A		Adrenoleukodystrophy	Likely benign (Nov 27, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP