CNTN4-AS1

CNTN4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:3039033-3069242

Links

ENSG00000237990 ∙ ∙ ∙ HGNC:39985 ∙ ∙ ∙ 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 CNTN4-AS1 gene.

• not provided (28 variants)
• Inborn genetic diseases (13 variants)
• CNTN4-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CNTN4-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			15	6	21	42
Total	0	0	15	6	21

Variants in CNTN4-AS1

This is a list of pathogenic ClinVar variants found in the CNTN4-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
3-3039832-A-G			Benign (Nov 10, 2018)
3-3039860-C-T			Benign (Nov 10, 2018)
3-3040066-A-T			Benign (Nov 05, 2018)
3-3040078-T-C			Benign (Dec 31, 2019)
3-3040141-T-C			Benign (Nov 05, 2018)
3-3040142-G-A		not specified	Uncertain significance (Dec 08, 2023)
3-3040168-G-C			Uncertain significance (Jun 03, 2018)
3-3040199-A-G		not specified	Uncertain significance (Mar 24, 2023)
3-3040275-T-C		CNTN4-related disorder	Benign (Nov 10, 2018)
3-3040319-T-A			Benign (Nov 10, 2018)
3-3040341-G-T			Benign (Nov 10, 2018)
3-3040452-G-A			Benign (Nov 10, 2018)
3-3042361-A-T		CNTN4-related disorder	Likely benign (Dec 31, 2019)
3-3042390-G-A		not specified	Uncertain significance (Nov 18, 2022)
3-3042463-A-G			Benign (Nov 10, 2018)
3-3042587-T-C			Benign (Nov 10, 2018)
3-3042595-C-T			Benign (Nov 10, 2018)
3-3042756-T-G			Benign (Nov 10, 2018)
3-3042759-A-T			Benign (Nov 10, 2018)
3-3042969-C-T		CNTN4-related disorder	Benign (Nov 10, 2018)
3-3042990-G-C		CNTN4-related disorder	Uncertain significance (May 09, 2023)
3-3043003-A-C		not specified	Uncertain significance (Jan 06, 2023)
3-3043042-G-A			Likely benign (Dec 31, 2019)
3-3043059-C-T		not specified	Uncertain significance (Aug 02, 2023)
3-3043063-C-G		not specified	Uncertain significance (Jul 06, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP