TPTE2P6
Basic information
Region (hg38): 13:24408157-24597660
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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 | 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) | ||
13-24421254-T-C | Likely benign (Apr 01, 2024) | |||
13-24421321-T-TA | Benign (Jan 17, 2024) | |||
13-24426560-T-A | not specified | Uncertain significance (Aug 15, 2023) | ||
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) | ||
13-24434567-C-T | not specified | Uncertain significance (Mar 29, 2024) | ||
13-24434591-G-A | not specified | Uncertain significance (Nov 07, 2022) | ||
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 (Dec 02, 2021) | ||
13-24434847-G-T | not specified | Uncertain significance (Mar 07, 2024) | ||
13-24434987-G-A | not specified | Uncertain significance (Aug 30, 2021) | ||
13-24435017-T-A | not specified | Uncertain significance (Nov 18, 2022) | ||
13-24435084-C-G | not specified | Uncertain significance (Aug 17, 2021) | ||
13-24435093-A-G | not specified | Uncertain significance (Dec 05, 2022) | ||
13-24435107-C-T | not specified | Uncertain significance (May 28, 2024) | ||
13-24435143-G-A | not specified | Uncertain significance (Aug 08, 2022) |
GnomAD
Source:
dbNSFP
Source: