FBXW7-AS1

FBXW7 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:152337655-152338098

Links

ENSG00000270751 ∙ NCBI:102191832 ∙ ∙ HGNC:52397 ∙ Uniprot:B0L3A2 ∙ AlphaFold ∙ 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 FBXW7-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FBXW7-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		1	5	1		7
Total	0	1	5	1	0

Variants in FBXW7-AS1

This is a list of pathogenic ClinVar variants found in the FBXW7-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
4-152337813-G-A		Developmental delay, hypotonia, and impaired language	Uncertain significance (May 20, 2023)
4-152337828-C-A			Uncertain significance (Mar 22, 2023)
4-152337831-G-A		Neurodevelopmental disorder	Likely pathogenic (Jun 01, 2022)
4-152337859-CAT-C			Pathogenic (Oct 11, 2024)
4-152337860-A-G			Uncertain significance (Jan 04, 2024)
4-152337860-A-T		EBV-positive nodal T- and NK-cell lymphoma	Pathogenic (-)
4-152337864-G-A			Uncertain significance (Apr 15, 2024)
4-152337865-T-C			Benign (Jan 17, 2025)
4-152337883-A-G		Inborn genetic diseases	Likely benign (Sep 05, 2020)
4-152337903-C-T			Uncertain significance (Mar 08, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP