FOXD3-AS1

FOXD3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:63320056-63324801

Links

ENSG00000230798 ∙ NCBI:100996301 ∙ ∙ HGNC:40241 ∙ ∙ ∙ 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 FOXD3-AS1 gene.

• Inborn genetic diseases (23 variants)
• not provided (3 variants)
• Autoimmune disease, susceptibility to, 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOXD3-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			24	2		26
Total	0	0	24	2	0

Variants in FOXD3-AS1

This is a list of pathogenic ClinVar variants found in the FOXD3-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
1-63322420-G-T		Autoimmune disease, susceptibility to, 1	risk factor (Aug 01, 2005)
1-63323197-C-A		not specified	Uncertain significance (Feb 21, 2024)
1-63323207-C-T		not specified	Uncertain significance (Jan 24, 2024)
1-63323249-C-A		not specified	Uncertain significance (Jun 22, 2024)
1-63323303-C-T		not specified	Uncertain significance (Oct 02, 2023)
1-63323315-C-T		not specified	Uncertain significance (Jun 29, 2023)
1-63323324-G-A		FOXD3-related disorder	Uncertain significance (Nov 22, 2023)
1-63323344-G-T		FOXD3-related disorder	Benign (Dec 05, 2019)
1-63323416-C-A		not specified	Uncertain significance (Mar 20, 2023)
1-63323419-G-A		not specified	Uncertain significance (Aug 17, 2021)
1-63323453-C-A		not specified	Uncertain significance (Oct 26, 2022)
1-63323462-C-G		not specified	Uncertain significance (Jan 31, 2022)
1-63323490-C-T		FOXD3-related disorder	Likely benign (Sep 13, 2021)
1-63323593-A-G		not specified	Uncertain significance (May 26, 2024)
1-63323697-C-T			Benign/Likely benign (Jan 01, 2023)
1-63323740-G-C		not specified	Uncertain significance (Jun 01, 2023)
1-63323778-C-T		FOXD3-related disorder	Likely benign (Mar 27, 2019)
1-63323807-C-T		not specified	Uncertain significance (Jan 02, 2024)
1-63323849-C-G		not specified	Uncertain significance (Jun 11, 2021)
1-63323855-G-C		not specified	Uncertain significance (Aug 09, 2021)
1-63323861-C-G		not specified	Uncertain significance (Nov 12, 2021)
1-63323861-C-T		not specified	Uncertain significance (Apr 24, 2024)
1-63323862-G-C		FOXD3-related disorder	Likely benign (Feb 22, 2019)
1-63323884-G-C		not specified	Uncertain significance (Feb 07, 2023)
1-63323893-C-A		not specified	Uncertain significance (Aug 22, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP