F11-AS1

F11 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:186286094-186501064

Links

ENSG00000251165 ∙ NCBI:285441 ∙ ∙ HGNC:27725 ∙ ∙ ∙ 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 F11-AS1 gene.

• Hereditary factor XI deficiency disease (78 variants)
• not provided (75 variants)
• Plasma factor XI deficiency (16 variants)
• not specified (4 variants)
• F11-related condition (2 variants)
• Inborn genetic diseases (2 variants)
• Abnormal bleeding (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the F11-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	5	16	50	39	24	134
Total	5	16	50	39	24

Highest pathogenic variant AF is 0.0000263

Variants in F11-AS1

This is a list of pathogenic ClinVar variants found in the F11-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
4-186286200-C-T			Benign (Jun 19, 2021)
4-186286227-C-T			Benign (Dec 18, 2023)
4-186286381-G-T		Hereditary factor XI deficiency disease	Benign/Likely benign (Jul 10, 2021)
4-186286395-C-G			Likely benign (Dec 09, 2023)
4-186286398-C-T			Likely benign (Aug 16, 2023)
4-186286398-CG-C			Likely benign (Sep 10, 2023)
4-186286399-GA-G			Likely benign (Apr 18, 2023)
4-186286401-T-C			Likely benign (Sep 10, 2023)
4-186286400-A-ACC			Likely benign (Sep 10, 2023)
4-186286406-T-A		Hereditary factor XI deficiency disease	Conflicting classifications of pathogenicity (Dec 18, 2023)
4-186286407-A-T			Likely benign (Apr 23, 2023)
4-186286414-G-C		Hereditary factor XI deficiency disease	Likely pathogenic (May 08, 2017)
4-186286414-G-T		Hereditary factor XI deficiency disease	Conflicting classifications of pathogenicity (Aug 22, 2023)
4-186286423-C-T		Hereditary factor XI deficiency disease • F11-related disorder • Plasma factor XI deficiency	Pathogenic/Likely pathogenic (Mar 29, 2024)
4-186286441-T-C			not provided (-)
4-186286443-CA-C			Pathogenic (Dec 10, 2023)
4-186286451-A-G		Hereditary factor XI deficiency disease	Uncertain significance (Apr 18, 2017)
4-186286452-T-C		Plasma factor XI deficiency	Likely benign (Jul 26, 2019)
4-186286453-A-C			Likely benign (Aug 12, 2022)
4-186286455-A-G			Likely benign (Jul 07, 2020)
4-186286459-G-A			Likely benign (Aug 11, 2023)
4-186286465-T-C			not provided (-)
4-186286475-G-T		not specified	Uncertain significance (Aug 26, 2024)
4-186286480-G-A		Hereditary factor XI deficiency disease	Conflicting classifications of pathogenicity (May 16, 2023)
4-186286489-T-TG		Hereditary factor XI deficiency disease	Likely pathogenic (Apr 15, 2016)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP