FBXO38-DT

FBXO38 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 5:148088125-148383911

Links

ENSG00000247199 ∙ NCBI:102546294 ∙ ∙ HGNC:55589 ∙ ∙ ∙ 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 FBXO38-DT gene.

• Netherton syndrome (606 variants)
• not provided (272 variants)
• Inborn genetic diseases (48 variants)
• not specified (43 variants)
• Susceptibility to nonsyndromic otitis media (9 variants)
• Increased circulating IgE level;Erythroderma (2 variants)
• Otitis media, susceptibility to (1 variants)
• SPINK5 POLYMORPHISM (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXO38-DT 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	51	15	347	228	184	825
Total	51	15	347	228	184

Highest pathogenic variant AF is 0.0000460

Variants in FBXO38-DT

This is a list of pathogenic ClinVar variants found in the FBXO38-DT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-148088522-C-G		Ichthyosis linearis circumflexa	Likely benign (Aug 23, 2022)
5-148088529-CT-C		Ichthyosis linearis circumflexa	Benign (Sep 08, 2023)
5-148088535-A-G		Ichthyosis linearis circumflexa	Likely benign (Sep 08, 2023)
5-148088537-T-A			Uncertain significance (Sep 01, 2016)
5-148088548-C-T			Likely benign (Dec 01, 2022)
5-148088549-G-A		Ichthyosis linearis circumflexa	Uncertain significance (Jul 25, 2022)
5-148088557-A-C		Ichthyosis linearis circumflexa	Uncertain significance (Jul 19, 2020)
5-148088557-A-G		Ichthyosis linearis circumflexa	Likely benign (Apr 24, 2022)
5-148088558-A-G		Ichthyosis linearis circumflexa	Uncertain significance (Mar 18, 2022)
5-148088574-A-C		Netherton syndrome	Uncertain significance (Sep 07, 2022)
5-148088581-A-G		Ichthyosis linearis circumflexa	Likely benign (Jan 06, 2024)
5-148088583-G-A		Ichthyosis linearis circumflexa • Inborn genetic diseases	Uncertain significance (Jul 28, 2024)
5-148088587-G-A		Ichthyosis linearis circumflexa	Likely benign (Jan 29, 2024)
5-148088591-A-C		Netherton syndrome	Uncertain significance (Aug 19, 2022)
5-148088591-A-G		Netherton syndrome	Uncertain significance (Apr 04, 2022)
5-148088595-A-G		Netherton syndrome	Uncertain significance (Aug 31, 2021)
5-148088599-A-G		Ichthyosis linearis circumflexa	Likely benign (Apr 27, 2020)
5-148088604-A-C		Ichthyosis linearis circumflexa	Uncertain significance (Jun 09, 2023)
5-148088612-T-A		Ichthyosis linearis circumflexa	Likely benign (Apr 18, 2019)
5-148088613-C-A		Ichthyosis linearis circumflexa	Likely benign (Jan 08, 2024)
5-148088616-T-C		Ichthyosis linearis circumflexa	Likely benign (Jun 22, 2022)
5-148088671-C-G		not specified	Benign (Jan 24, 2024)
5-148088835-T-TA			Benign (Sep 03, 2019)
5-148088835-T-TAA			Benign (Nov 07, 2019)
5-148088887-A-C			Likely benign (Mar 10, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP