TPTE2P6

TPTE2 pseudogene 6

Basic information

Region (hg38): 13:24408157-24597660

Links

ENSG00000205822 ∙ NCBI:374491 ∙ ∙ HGNC:42644 ∙ ∙ ∙ 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 TPTE2P6 gene.

• Inborn genetic diseases (67 variants)
• not provided (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TPTE2P6 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			66	13	9	88
Total	0	0	66	13	9

Variants in TPTE2P6

This is a list of pathogenic ClinVar variants found in the TPTE2P6 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-24421157-A-G		not specified	Uncertain significance (Oct 27, 2022)
13-24421201-G-A		not specified	Uncertain significance (Mar 01, 2023)
13-24421229-G-A		not specified	Uncertain significance (Jun 11, 2021)
13-24421240-G-A			Uncertain significance (Oct 01, 2024)
13-24421254-T-C			Likely benign (Apr 01, 2024)
13-24421321-T-TA			Benign (Jan 17, 2024)
13-24426557-T-C		not specified	Uncertain significance (Jul 09, 2024)
13-24426560-T-A		not specified	Uncertain significance (Aug 15, 2023)
13-24426563-C-A		not specified	Uncertain significance (Oct 03, 2024)
13-24431445-C-A		not specified	Uncertain significance (Jan 23, 2024)
13-24434411-A-T		not specified	Uncertain significance (May 06, 2024)
13-24434460-T-C		not specified	Uncertain significance (Mar 01, 2024)
13-24434496-T-C		not specified	Uncertain significance (Sep 12, 2023)
13-24434505-C-T		not specified	Uncertain significance (Jun 17, 2024)
13-24434543-T-C		not specified	Uncertain significance (Sep 14, 2022)
13-24434564-T-C		not specified	Uncertain significance (Jul 08, 2024)
13-24434567-C-T		not specified	Uncertain significance (Mar 29, 2024)
13-24434591-G-A		not specified	Uncertain significance (Nov 07, 2022)
13-24434601-G-T		not specified	Uncertain significance (Jun 28, 2024)
13-24434630-G-A		not specified	Uncertain significance (May 18, 2022)
13-24434735-G-C			Likely benign (Jun 01, 2022)
13-24434781-A-T		not specified	Uncertain significance (Jun 17, 2022)
13-24434828-T-C		not specified	Uncertain significance (Jul 14, 2024)
13-24434847-G-T		not specified	Uncertain significance (Mar 07, 2024)
13-24434858-G-A		not specified	Uncertain significance (Dec 03, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP