CTBP1-AS

CTBP1 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 4:1210120-1218591

Links

ENSG00000280927 ∙ NCBI:285463 ∙ ∙ HGNC:48337 ∙ ∙ ∙ 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 CTBP1-AS gene.

• not provided (108 variants)
• Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (8 variants)
• Inborn genetic diseases (8 variants)
• not specified (1 variants)
• Microcephaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTBP1-AS 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		46	61	11	119
Total	1	0	46	61	11

Variants in CTBP1-AS

This is a list of pathogenic ClinVar variants found in the CTBP1-AS region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-1212253-C-T			Uncertain significance (Aug 10, 2022)
4-1212256-G-T			Uncertain significance (Jul 01, 2022)
4-1212257-C-T			Likely benign (Sep 01, 2024)
4-1212258-G-A			Likely benign (Jul 13, 2022)
4-1212261-G-A			Likely benign (Mar 01, 2022)
4-1212270-C-T			Benign (Jul 29, 2023)
4-1212271-G-A			Uncertain significance (Oct 24, 2022)
4-1212273-C-T			Likely benign (Jun 01, 2024)
4-1212284-C-T		Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	Uncertain significance (Nov 01, 2023)
4-1212298-G-A			Uncertain significance (Jun 23, 2024)
4-1212301-G-A			Conflicting classifications of pathogenicity (Oct 03, 2023)
4-1212305-C-A			Uncertain significance (May 24, 2024)
4-1212305-C-T		Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	Uncertain significance (Dec 19, 2024)
4-1212306-G-A			Likely benign (Jan 01, 2023)
4-1212307-T-TG			Uncertain significance (Jul 08, 2024)
4-1212312-C-G			Likely benign (Nov 01, 2022)
4-1212312-C-T			Likely benign (Dec 11, 2022)
4-1212316-T-A			Benign/Likely benign (Sep 01, 2023)
4-1212319-G-A			Uncertain significance (Feb 13, 2023)
4-1212321-C-A			Likely benign (Aug 17, 2023)
4-1212323-C-T			Uncertain significance (May 15, 2024)
4-1212324-A-T		CTBP1-related disorder	Benign (Jan 29, 2024)
4-1212327-G-C			Likely benign (Jan 17, 2024)
4-1212335-C-T		Inborn genetic diseases • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	Uncertain significance (Mar 25, 2024)
4-1212336-G-A			Likely benign (Jun 12, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP