RHOXF1P3

Rhox homeobox family member 1 pseudogene 3

Basic information

Region (hg38): X:119942834-119992838

Links

ENSG00000282933 ∙ NCBI:107075307 ∙ ∙ HGNC:51612 ∙ ∙ ∙ 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 RHOXF1P3 gene.

• not provided (4 variants)
• Inborn genetic diseases (3 variants)
• NKAP-related condition (2 variants)
• not specified (1 variants)
• Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type (1 variants)
• Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOXF1P3 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						0
Total	0	0	0	0	0

Variants in RHOXF1P3

This is a list of pathogenic ClinVar variants found in the RHOXF1P3 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-119943236-C-T		Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	Uncertain significance (Mar 08, 2022)
X-119943241-C-T		Inborn genetic diseases	Likely benign (Aug 04, 2024)
X-119943262-G-A		Inborn genetic diseases	Uncertain significance (Jun 13, 2024)
X-119943275-C-G		Inborn genetic diseases	Likely benign (Sep 13, 2023)
X-119943285-G-A			Benign (Jun 18, 2018)
X-119943287-G-A			Uncertain significance (Feb 01, 2024)
X-119943311-C-T		NKAP-related disorder	Uncertain significance (Sep 22, 2022)
X-119943338-T-C			Uncertain significance (Apr 18, 2022)
X-119943356-G-A		Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	Uncertain significance (-)
X-119943378-CGAGCGT-C			Uncertain significance (Jul 29, 2024)
X-119943395-A-T			Uncertain significance (Dec 01, 2022)
X-119943463-G-A		not specified • Inborn genetic diseases	Conflicting classifications of pathogenicity (Nov 20, 2024)
X-119943463-G-C		Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	Uncertain significance (Feb 03, 2023)
X-119943478-C-T		Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	Uncertain significance (Nov 09, 2021)
X-119943485-G-A		Inborn genetic diseases	Uncertain significance (Mar 01, 2023)
X-119943496-G-A		NKAP-related disorder	Uncertain significance (Aug 23, 2024)
X-119943515-T-C		Inborn genetic diseases	Likely benign (Sep 03, 2024)
X-119943541-C-G			Uncertain significance (Jul 20, 2022)
X-119943590-C-A		Inborn genetic diseases	Uncertain significance (Apr 25, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP