CTAGE4

CTAGE family member 4, the group of CTAGE family

Basic information

Region (hg38): 7:144183466-144186080

Links

ENSG00000288784 ∙ NCBI:100128553 ∙ OMIM:608910 ∙ HGNC:24772 ∙ Uniprot:Q8IX94 ∙ AlphaFold ∙ 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 CTAGE4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTAGE4 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			22	3		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	3	0

Variants in CTAGE4

This is a list of pathogenic ClinVar variants found in the CTAGE4 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-144183802-A-G		not specified	Uncertain significance (Jun 03, 2022)
7-144183954-A-G		not specified	Uncertain significance (Nov 12, 2021)
7-144184117-G-A		not specified	Uncertain significance (May 14, 2024)
7-144184117-G-T		not specified	Uncertain significance (Dec 14, 2023)
7-144184303-A-T		not specified	Uncertain significance (Aug 02, 2023)
7-144184333-A-C		not specified	Uncertain significance (May 29, 2024)
7-144184366-C-G		not specified	Uncertain significance (Aug 10, 2021)
7-144184366-C-T		not specified	Uncertain significance (Apr 07, 2022)
7-144184371-G-A		not specified	Uncertain significance (Aug 10, 2021)
7-144184377-A-G		not specified	Uncertain significance (Apr 23, 2024)
7-144184380-C-G		not specified	Uncertain significance (Dec 04, 2023)
7-144184428-G-A		not specified	Uncertain significance (Sep 16, 2021)
7-144184477-A-G		not specified	Uncertain significance (Apr 07, 2022)
7-144185101-C-T		not specified	Likely benign (Apr 28, 2022)
7-144185155-C-T		not specified	Uncertain significance (Oct 26, 2022)
7-144185245-A-G		not specified	Likely benign (Apr 13, 2022)
7-144185257-T-C		not specified	Likely benign (Jun 03, 2022)
7-144185317-G-A		not specified	Uncertain significance (Jun 02, 2023)
7-144185340-G-A		not specified	Uncertain significance (Mar 27, 2023)
7-144185371-C-T		not specified	Uncertain significance (Jul 09, 2021)
7-144185406-A-G		not specified	Uncertain significance (Sep 28, 2022)
7-144185524-A-T		not specified	Uncertain significance (Apr 27, 2024)
7-144185541-T-G		not specified	Conflicting classifications of pathogenicity (Apr 04, 2023)
7-144185601-C-T		not specified	Uncertain significance (Oct 12, 2021)
7-144185609-C-A		not specified	Uncertain significance (Sep 27, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP