FKBP14-AS1

FKBP14 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:29988600-30027543

Links

ENSG00000227014 ∙ NCBI:105375215 ∙ ∙ HGNC:40990 ∙ ∙ ∙ 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 FKBP14-AS1 gene.

• Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (145 variants)
• Cardiovascular phenotype (58 variants)
• not provided (40 variants)
• Ehlers-Danlos syndrome (7 variants)
• not specified (7 variants)
• Inborn genetic diseases (7 variants)
• Hypotonia (1 variants)
• Joint hypermobility;Pes valgus;Hypotonia;Thoracolumbar scoliosis;Congenital muscular dystrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FKBP14-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	8	6	93	72	9	188
Total	8	6	93	72	9

Highest pathogenic variant AF is 0.0000197

Variants in FKBP14-AS1

This is a list of pathogenic ClinVar variants found in the FKBP14-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
7-30014063-G-A		not specified	Benign (Mar 29, 2016)
7-30014733-C-G			Likely benign (Mar 29, 2024)
7-30014735-C-G		Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Pathogenic (Aug 07, 2019)
7-30014739-A-G		Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Uncertain significance (May 19, 2022)
7-30014747-G-A		Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Likely benign (Oct 13, 2021)
7-30014752-T-G		Ehlers-Danlos syndrome, kyphoscoliotic type, 2 • Cardiovascular phenotype	Uncertain significance (Jan 25, 2023)
7-30014756-T-C		Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Likely benign (Apr 02, 2023)
7-30014776-T-A		Cardiovascular phenotype	Uncertain significance (Apr 26, 2024)
7-30014776-T-C		Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Uncertain significance (Mar 18, 2022)
7-30014780-C-A		Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Likely benign (Apr 12, 2022)
7-30014782-C-T		Ehlers-Danlos syndrome, kyphoscoliotic type, 2 • Cardiovascular phenotype	Uncertain significance (Jan 04, 2023)
7-30014789-G-A		Cardiovascular phenotype	Likely benign (Dec 08, 2023)
7-30014789-G-C		Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Uncertain significance (May 24, 2019)
7-30014791-C-T		Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Uncertain significance (Nov 28, 2022)
7-30014795-A-G		Ehlers-Danlos syndrome, kyphoscoliotic type, 2 • Cardiovascular phenotype	Likely benign (Apr 08, 2024)
7-30014795-ATCT-A		Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Pathogenic (Jan 15, 2019)
7-30014798-T-A		Ehlers-Danlos syndrome, kyphoscoliotic type, 2 • Cardiovascular phenotype	Uncertain significance (Jun 20, 2022)
7-30014800-CTTT-C		Ehlers-Danlos syndrome, kyphoscoliotic type, 2 • Ehlers-Danlos syndrome • Cardiovascular phenotype	Conflicting classifications of pathogenicity (Jul 15, 2024)
7-30014801-T-C		Cardiovascular phenotype	Likely benign (Feb 28, 2023)
7-30014803-T-A			Uncertain significance (Jun 23, 2020)
7-30014803-T-G		Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Uncertain significance (Aug 27, 2021)
7-30014810-A-T		Ehlers-Danlos syndrome, kyphoscoliotic type, 2 • Cardiovascular phenotype	Likely benign (Aug 02, 2021)
7-30014811-A-C		Ehlers-Danlos syndrome, kyphoscoliotic type, 2 • Cardiovascular phenotype	Uncertain significance (May 11, 2023)
7-30014812-T-C		Cardiovascular phenotype	Uncertain significance (May 04, 2024)
7-30014813-A-G		Ehlers-Danlos syndrome, kyphoscoliotic type, 2	Likely benign (Aug 09, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP