TCF4-AS1

TCF4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 18:55452533-55482940

Links

ENSG00000267028 ∙ ∙ ∙ HGNC:51642 ∙ ∙ ∙ 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 TCF4-AS1 gene.

• Pitt-Hopkins syndrome (46 variants)
• not provided (27 variants)
• not specified (7 variants)
• Inborn genetic diseases (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TCF4-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	3	1	16	34	12	66
Total	3	1	16	34	12

Variants in TCF4-AS1

This is a list of pathogenic ClinVar variants found in the TCF4-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
18-55461006-A-G		Pitt-Hopkins syndrome	Likely benign (Aug 16, 2022)
18-55461018-C-T			Pathogenic (May 04, 2023)
18-55461019-T-A		Pitt-Hopkins syndrome	Likely benign (Dec 07, 2023)
18-55461019-T-G		Pitt-Hopkins syndrome	Uncertain significance (Jul 19, 2022)
18-55461024-A-T		Pitt-Hopkins syndrome	Uncertain significance (Jun 18, 2023)
18-55461028-TG-T		Pitt-Hopkins syndrome	Pathogenic (Dec 13, 2019)
18-55461032-A-G		Pitt-Hopkins syndrome	Likely benign (Aug 17, 2022)
18-55461033-T-C		Pitt-Hopkins syndrome	Likely benign (Jan 16, 2024)
18-55461043-G-A		Pitt-Hopkins syndrome	Uncertain significance (Apr 15, 2022)
18-55461045-G-A		Pitt-Hopkins syndrome	Uncertain significance (Aug 11, 2018)
18-55461054-T-C		not specified • Pitt-Hopkins syndrome • Inborn genetic diseases	Benign (Mar 26, 2021)
18-55461059-A-T		Pitt-Hopkins syndrome	Uncertain significance (Oct 10, 2021)
18-55461060-T-C		Pitt-Hopkins syndrome	Likely benign (Dec 07, 2023)
18-55461064-A-G		Pitt-Hopkins syndrome	Uncertain significance (Jan 17, 2024)
18-55461067-C-T		TCF4-related disorder	Uncertain significance (Aug 23, 2024)
18-55461077-G-A		Pitt-Hopkins syndrome	Benign (Dec 28, 2021)
18-55461078-C-T		Pitt-Hopkins syndrome	Conflicting classifications of pathogenicity (Jan 13, 2022)
18-55461081-G-C		Inborn genetic diseases • Pitt-Hopkins syndrome	Uncertain significance (Jun 25, 2024)
18-55461081-G-T		Pitt-Hopkins syndrome	Uncertain significance (Jun 21, 2016)
18-55461083-C-T		Pitt-Hopkins syndrome	Likely benign (Oct 03, 2023)
18-55461086-G-A		Pitt-Hopkins syndrome	Likely benign (May 20, 2019)
18-55461086-G-C		Inborn genetic diseases	Uncertain significance (Dec 21, 2023)
18-55461088-G-C		Pitt-Hopkins syndrome	Uncertain significance (May 06, 2022)
18-55461099-G-A		Pitt-Hopkins syndrome	Uncertain significance (Dec 16, 2018)
18-55461100-T-C		not specified • Pitt-Hopkins syndrome • Inborn genetic diseases	Likely benign (Nov 07, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP