TPTE2P6

TPTE2 pseudogene 6

Basic information

Region (hg38): 13:24408157-24597660

Links

ENSG00000205822NCBI:374491HGNC:42644GenCCjaxSfariGnomADPubmedClinVar

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
clinvar
13
clinvar
9
clinvar
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)2321293
13-24421201-G-A not specified Uncertain significance (Mar 01, 2023)2473039
13-24421229-G-A not specified Uncertain significance (Jun 11, 2021)2225951
13-24421254-T-C Likely benign (Apr 01, 2024)2643684
13-24421321-T-TA Benign (Jan 17, 2024)2796426
13-24426560-T-A not specified Uncertain significance (Aug 15, 2023)2619058
13-24431445-C-A not specified Uncertain significance (Jan 23, 2024)3208788
13-24434411-A-T not specified Uncertain significance (May 06, 2024)3304404
13-24434460-T-C not specified Uncertain significance (Mar 01, 2024)3208787
13-24434496-T-C not specified Uncertain significance (Sep 12, 2023)2597357
13-24434505-C-T not specified Uncertain significance (Jun 17, 2024)3304400
13-24434543-T-C not specified Uncertain significance (Sep 14, 2022)2312083
13-24434567-C-T not specified Uncertain significance (Mar 29, 2024)2379454
13-24434591-G-A not specified Uncertain significance (Nov 07, 2022)2302609
13-24434630-G-A not specified Uncertain significance (May 18, 2022)2290357
13-24434735-G-C Likely benign (Jun 01, 2022)2643685
13-24434781-A-T not specified Uncertain significance (Jun 17, 2022)2295861
13-24434828-T-C not specified Uncertain significance (Dec 02, 2021)3208784
13-24434847-G-T not specified Uncertain significance (Mar 07, 2024)3208783
13-24434987-G-A not specified Uncertain significance (Aug 30, 2021)2344754
13-24435017-T-A not specified Uncertain significance (Nov 18, 2022)2347707
13-24435084-C-G not specified Uncertain significance (Aug 17, 2021)2385348
13-24435093-A-G not specified Uncertain significance (Dec 05, 2022)2332909
13-24435107-C-T not specified Uncertain significance (May 28, 2024)3304401
13-24435143-G-A not specified Uncertain significance (Aug 08, 2022)2305904

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP