FOXC2-AS1

FOXC2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:86564951-86569019

Links

ENSG00000260944 ∙ NCBI:103752587 ∙ ∙ HGNC:50665 ∙ ∙ ∙ 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 FOXC2-AS1 gene.

• not provided (24 variants)
• Distichiasis-lymphedema syndrome (11 variants)
• Inborn genetic diseases (11 variants)
• not specified (4 variants)
• FOXC2-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOXC2-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	11	4	16	8	6	45
Total	11	4	16	8	6

Variants in FOXC2-AS1

This is a list of pathogenic ClinVar variants found in the FOXC2-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
16-86566986-G-T			Benign (Jun 18, 2021)
16-86567342-G-A		Inborn genetic diseases	Uncertain significance (Apr 12, 2022)
16-86567354-G-A			Uncertain significance (Sep 21, 2023)
16-86567355-T-C		Inborn genetic diseases	Uncertain significance (Jul 25, 2023)
16-86567356-G-A			Likely benign (Nov 03, 2023)
16-86567376-G-A		Inborn genetic diseases	Uncertain significance (Apr 08, 2024)
16-86567381-G-C		Inborn genetic diseases	Uncertain significance (Feb 13, 2023)
16-86567398-G-C		Inborn genetic diseases	Uncertain significance (Mar 31, 2024)
16-86567404-T-C			Likely benign (Aug 21, 2018)
16-86567414-G-C		Inborn genetic diseases	Uncertain significance (Apr 08, 2024)
16-86567415-C-T			Uncertain significance (Dec 31, 2019)
16-86567433-G-T			Uncertain significance (Jun 01, 2023)
16-86567443-C-T		not specified	Benign (Jun 01, 2024)
16-86567457-A-T		Distichiasis-lymphedema syndrome	Pathogenic (Jan 02, 2019)
16-86567459-T-G		Inborn genetic diseases	Uncertain significance (Aug 19, 2022)
16-86567463-GC-G			Pathogenic (Jun 06, 2017)
16-86567489-A-G		Inborn genetic diseases	Uncertain significance (Dec 01, 2022)
16-86567496-G-A		Inborn genetic diseases	Uncertain significance (Nov 22, 2023)
16-86567496-G-T			Uncertain significance (Jul 20, 2022)
16-86567504-G-T			Uncertain significance (Dec 10, 2022)
16-86567507-C-T		Inborn genetic diseases	Uncertain significance (Sep 10, 2024)
16-86567517-A-C		Inborn genetic diseases	Uncertain significance (Nov 24, 2024)
16-86567518-C-T			Benign (Mar 14, 2023)
16-86567522-C-T		FOXC2-related disorder	Likely pathogenic (Jul 14, 2024)
16-86567526-C-T		not specified	Uncertain significance (Jul 30, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP