TBC1D3H

TBC1 domain family member 3H

Basic information

Region (hg38): 17:36377531-36388435

Links

ENSG00000274226 ∙ NCBI:729877 ∙ OMIM:610811 ∙ HGNC:30708 ∙ Uniprot:P0C7X1 ∙ 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 TBC1D3H gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBC1D3H 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in TBC1D3H

This is a list of pathogenic ClinVar variants found in the TBC1D3H region.

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

Position	Type	Phenotype	Significance	ClinVar
17-36377924-T-G		not specified	Uncertain significance (Jul 16, 2021)
17-36377995-G-A		not specified	Uncertain significance (Jul 19, 2022)
17-36378162-C-T		not specified	Uncertain significance (Jan 12, 2024)
17-36378189-G-A		not specified	Uncertain significance (Jan 23, 2023)
17-36378196-G-A		not specified	Uncertain significance (Nov 08, 2021)
17-36378231-C-G		not specified	Uncertain significance (Mar 17, 2023)
17-36378273-C-G		not specified	Uncertain significance (Aug 17, 2021)
17-36378273-C-T		not specified	Uncertain significance (Apr 28, 2022)
17-36378310-G-A		not specified	Uncertain significance (Sep 22, 2021)
17-36378340-C-T		not specified	Uncertain significance (Apr 08, 2024)
17-36378357-T-C		not specified	Uncertain significance (Aug 08, 2022)
17-36378376-G-T		not specified	Uncertain significance (Apr 20, 2023)
17-36378379-C-T		not specified	Uncertain significance (Feb 28, 2023)
17-36378393-G-A		not specified	Uncertain significance (Jan 24, 2023)
17-36383734-T-C		not specified	Uncertain significance (Nov 30, 2022)
17-36385258-G-A		not specified	Uncertain significance (Sep 27, 2022)
17-36385292-C-T		not specified	Uncertain significance (Jun 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). {ECO:0000250}.

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0276

Gene ontology

• Biological process: intracellular protein transport;activation of GTPase activity
• Cellular component: plasma membrane
• Molecular function: GTPase activator activity;Rab GTPase binding