TIMM23B-AGAP6

TIMM23B-AGAP6 readthrough (NMD candidate)

Basic information

Region (hg38): 10:49942056-50011654

Previous symbols: [ "LINC00843" ]

Links

ENSG00000178440 ∙ NCBI:113218477 ∙ ∙ HGNC:45009 ∙ ∙ ∙ 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 TIMM23B-AGAP6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIMM23B-AGAP6 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			1			1
non coding			56	3	1	60
Total	0	0	56	3	1

Variants in TIMM23B-AGAP6

This is a list of pathogenic ClinVar variants found in the TIMM23B-AGAP6 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-49988738-G-A		not specified	Uncertain significance (May 16, 2024)
10-49988752-G-A		not specified	Uncertain significance (Nov 22, 2023)
10-49988818-G-A		not specified	Uncertain significance (Feb 22, 2023)
10-49988842-G-T		not specified	Uncertain significance (Mar 18, 2024)
10-49988849-T-C		not specified	Uncertain significance (Jun 18, 2024)
10-49988862-A-G			Likely benign (May 01, 2022)
10-49988935-G-C		not specified	Uncertain significance (Jan 31, 2024)
10-49991696-G-A		not specified	Uncertain significance (Mar 20, 2023)
10-50002009-G-A		not specified	Likely benign (Aug 11, 2022)
10-50002030-T-C		not specified	Likely benign (Sep 20, 2023)
10-50008771-T-A		not specified	Uncertain significance (Dec 08, 2023)
10-50008774-T-C		not specified	Uncertain significance (Mar 01, 2023)
10-50008802-A-G		not specified	Uncertain significance (Dec 20, 2023)
10-50008831-A-G		not specified	Uncertain significance (May 27, 2022)
10-50008847-C-T		not specified	Uncertain significance (Jun 09, 2022)
10-50008862-G-A		not specified	Uncertain significance (May 16, 2023)
10-50008914-C-A		not specified	Uncertain significance (Dec 14, 2021)
10-50008914-CAA-C			Benign (Apr 02, 2018)
10-50008954-G-A		not specified	Uncertain significance (Oct 16, 2023)
10-50008963-A-G		not specified	Uncertain significance (Feb 16, 2023)
10-50009000-G-A		not specified	Uncertain significance (Jun 27, 2022)
10-50009023-T-A		not specified	Uncertain significance (Jun 03, 2022)
10-50009038-G-C		not specified	Uncertain significance (Nov 18, 2022)
10-50009095-A-G		not specified	Uncertain significance (Jan 09, 2024)
10-50009123-T-A		not specified	Uncertain significance (Dec 06, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP