FTCD-AS1

FTCD antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 21:46151614-46152647

Links

ENSG00000237338 ∙ ∙ ∙ HGNC:40243 ∙ ∙ ∙ 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 FTCD-AS1 gene.

• Glutamate formiminotransferase deficiency (28 variants)
• not provided (4 variants)
• Inborn genetic diseases (3 variants)
• Intellectual disability (2 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FTCD-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		14	7	10	32
Total	1	0	14	7	10

Highest pathogenic variant AF is 0.00000657

Variants in FTCD-AS1

This is a list of pathogenic ClinVar variants found in the FTCD-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
21-46151623-C-T		Glutamate formiminotransferase deficiency • Inborn genetic diseases	Conflicting classifications of pathogenicity (Dec 12, 2024)
21-46151653-A-C		Inborn genetic diseases	Uncertain significance (Jun 25, 2021)
21-46151660-C-T		Glutamate formiminotransferase deficiency	Likely benign (Nov 04, 2024)
21-46151662-C-A		Glutamate formiminotransferase deficiency • Inborn genetic diseases	Uncertain significance (Feb 26, 2024)
21-46151664-C-T		Glutamate formiminotransferase deficiency	Uncertain significance (Jan 05, 2022)
21-46151666-C-T		Glutamate formiminotransferase deficiency	Likely benign (Feb 13, 2023)
21-46151673-G-A		Glutamate formiminotransferase deficiency	Uncertain significance (Aug 31, 2021)
21-46151684-A-G		FTCD-AS1-related disorder	Likely benign (Mar 14, 2019)
21-46151701-TG-T		Glutamate formiminotransferase deficiency	Pathogenic (Mar 04, 2024)
21-46151714-G-A		Glutamate formiminotransferase deficiency	Likely benign (Sep 23, 2024)
21-46151717-C-T		Glutamate formiminotransferase deficiency	Benign (Oct 13, 2024)
21-46151718-G-A		Glutamate formiminotransferase deficiency • Inborn genetic diseases	Uncertain significance (Oct 03, 2024)
21-46151723-G-A		Glutamate formiminotransferase deficiency	Likely benign (Oct 03, 2023)
21-46151724-T-A		Inborn genetic diseases	Likely benign (Nov 08, 2021)
21-46151725-C-A		Glutamate formiminotransferase deficiency • FTCD-AS1-related disorder	Likely benign (Jan 01, 2025)
21-46151725-C-T		Glutamate formiminotransferase deficiency	Uncertain significance (Dec 25, 2024)
21-46151726-G-A		Glutamate formiminotransferase deficiency	Uncertain significance (Oct 17, 2024)
21-46151734-G-A		Glutamate formiminotransferase deficiency	Likely pathogenic (Feb 26, 2024)
21-46151751-C-T		Glutamate formiminotransferase deficiency	Benign (May 31, 2024)
21-46151753-C-T		Glutamate formiminotransferase deficiency	Benign (Jan 02, 2025)
21-46151875-G-A		Glutamate formiminotransferase deficiency	Likely benign (Jul 20, 2023)
21-46151878-C-T		Glutamate formiminotransferase deficiency	Likely benign (Feb 11, 2024)
21-46151879-G-A		Glutamate formiminotransferase deficiency	Likely benign (May 29, 2021)
21-46151882-G-C		Glutamate formiminotransferase deficiency	Benign (Nov 27, 2024)
21-46151896-T-A		Glutamate formiminotransferase deficiency • not specified	Benign (Jan 24, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP