PHOX2B-AS1

PHOX2B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:41748293-41872775

Links

ENSG00000250467 ∙ NCBI:105374425 ∙ ∙ HGNC:40457 ∙ ∙ ∙ 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 PHOX2B-AS1 gene.

• Haddad syndrome (116 variants)
• Hereditary cancer-predisposing syndrome (106 variants)
• Neuroblastoma, susceptibility to, 2 (11 variants)
• Congenital central hypoventilation (10 variants)
• not provided (9 variants)
• not specified (2 variants)
• Congenital central hypoventilation;Neuroblastoma, susceptibility to, 2 (1 variants)
• PHOX2B-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PHOX2B-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)			5	1		6
splice region						0
non coding	7	3	88	70	2	170
Total	7	3	93	71	2

Variants in PHOX2B-AS1

This is a list of pathogenic ClinVar variants found in the PHOX2B-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
4-41748350-AG-A		Haddad syndrome	Likely benign (Jul 14, 2023)
4-41748355-G-A		Haddad syndrome	Likely benign (Dec 01, 2023)
4-41748357-T-G		Haddad syndrome	Likely benign (Mar 23, 2023)
4-41748357-TGA-T		Haddad syndrome	Likely benign (Dec 20, 2021)
4-41748358-G-A		Haddad syndrome	Likely benign (Aug 14, 2023)
4-41748360-A-T		Haddad syndrome	Likely benign (Dec 20, 2021)
4-41748361-G-A		Haddad syndrome	Likely benign (Dec 13, 2017)
4-41748362-G-A		Haddad syndrome	Likely benign (Sep 23, 2021)
4-41748364-C-A		Haddad syndrome	Uncertain significance (Apr 01, 2024)
4-41748364-C-G		Haddad syndrome	Uncertain significance (Dec 06, 2022)
4-41748365-C-T		Haddad syndrome • Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 10, 2023)
4-41748366-T-C		Haddad syndrome	Uncertain significance (Oct 10, 2023)
4-41748369-C-T		Haddad syndrome • Neuroblastoma, susceptibility to, 2 • PHOX2B-related disorder	Likely pathogenic (Apr 03, 2023)
4-41748370-CTGCGGCG-C		Congenital central hypoventilation	Pathogenic (Dec 15, 2020)
4-41748373-C-A		Haddad syndrome • Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 30, 2024)
4-41748373-C-G		Haddad syndrome	Uncertain significance (Aug 29, 2022)
4-41748374-G-A		Hereditary cancer-predisposing syndrome	Likely benign (Jul 24, 2023)
4-41748374-G-T		Hereditary cancer-predisposing syndrome	Likely benign (May 05, 2023)
4-41748375-G-A		Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 24, 2023)
4-41748376-C-A		Haddad syndrome • Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 29, 2023)
4-41748376-C-G		Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 06, 2023)
4-41748376-C-T		Congenital central hypoventilation • Neuroblastoma, susceptibility to, 2	Uncertain significance (Mar 16, 2018)
4-41748377-G-A		not specified • Hereditary cancer-predisposing syndrome • Congenital central hypoventilation • Neuroblastoma, susceptibility to, 2 • Haddad syndrome	Benign/Likely benign (Jul 01, 2024)
4-41748377-G-C		Congenital central hypoventilation • Haddad syndrome • Hereditary cancer-predisposing syndrome	Pathogenic (May 18, 2020)
4-41748377-G-T		Hereditary cancer-predisposing syndrome	Pathogenic (May 18, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP