TMEM276

transmembrane protein 276

Basic information

Region (hg38): 8:144463817-144465667

Links

ENSG00000291317 ∙ NCBI:84773 ∙ ∙ HGNC:56235 ∙ Uniprot:P0DTL5 ∙ 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 TMEM276 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM276 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in TMEM276

This is a list of pathogenic ClinVar variants found in the TMEM276 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-144464447-G-T		Autosomal recessive non-syndromic intellectual disability	Uncertain significance (Sep 26, 2018)
8-144464486-G-A		not specified	Uncertain significance (Jul 05, 2023)
8-144464489-G-A		not specified	Uncertain significance (Jan 26, 2022)
8-144464609-T-A		not specified	Uncertain significance (Dec 20, 2023)
8-144464814-C-T		not specified	Uncertain significance (Jan 10, 2022)
8-144464823-C-T		not specified	Uncertain significance (Jan 27, 2022)
8-144464837-G-C		not specified	Uncertain significance (Aug 17, 2022)
8-144464856-G-C		not specified	Uncertain significance (Dec 06, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP