TBC1D3P1-DHX40P1

TBC1D3P1-DHX40P1 readthrough, transcribed pseudogene

Basic information

Region (hg38): 17:59962363-60019053

Links

ENSG00000267104 ∙ NCBI:653645 ∙ ∙ HGNC:42362 ∙ ∙ ∙ 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 TBC1D3P1-DHX40P1 gene.

• Inborn genetic diseases (8 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBC1D3P1-DHX40P1 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			8	1		9
Total	0	0	8	1	0

Variants in TBC1D3P1-DHX40P1

This is a list of pathogenic ClinVar variants found in the TBC1D3P1-DHX40P1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-59962562-A-G		not specified	Uncertain significance (Sep 13, 2023)
17-59962829-G-A		not specified	Uncertain significance (Jan 04, 2024)
17-59962854-C-T		not specified	Uncertain significance (Sep 20, 2023)
17-59962908-G-A		not specified	Uncertain significance (Aug 02, 2022)
17-59962927-A-T		not specified	Uncertain significance (Mar 18, 2024)
17-59962944-A-C		not specified	Uncertain significance (Mar 29, 2022)
17-59962995-G-A		not specified	Uncertain significance (Dec 15, 2022)
17-59963097-G-C		not specified	Uncertain significance (Sep 28, 2022)
17-59963106-C-T		not specified	Uncertain significance (Apr 09, 2024)
17-59963136-C-T		not specified	Uncertain significance (Jun 11, 2021)
17-59963150-T-C		not specified	Uncertain significance (Mar 05, 2024)
17-59963162-G-C		not specified	Uncertain significance (Aug 08, 2023)
17-59963165-G-T		not specified	Uncertain significance (Jun 24, 2022)
17-59963174-T-C		not specified	Uncertain significance (Dec 11, 2023)
17-59963203-G-A			Likely benign (Dec 01, 2022)
17-59963282-C-T		not specified	Uncertain significance (Nov 13, 2023)
17-59964660-G-C		not specified	Uncertain significance (Jan 04, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP