RHOXF1P3

Gene

Rhox homeobox family member 1 pseudogene 3

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chrX:119,942,834-119,992,838

External References & Databases

Ensembl (ENSG00000282933)

NCBI Gene (107075307)

Transcript & Mutation Effects

hg38 • Region Span ~50.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RHOXF1P3 variants in ClinVar

6 Conditions Cataloged

not providedTotal: 4

Inborn genetic diseasesTotal: 3

NKAP-related conditionTotal: 2

not specifiedTotal: 1

Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato typeTotal: 1

Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000639347.2	Ensembl	ENSP00000515422.1	2	Standard
ENST00000639347.3	Ensembl	ENSP00000515422.1	2	Standard
ENST00000640298.3	Ensembl	ENSP00000515421.1	2	Standard

dbNSFP Gene Annotations

Source: dbNSFP