TMEM269

transmembrane protein 269

Basic information

Region (hg38): 1:42784991-42816619

Links

ENSG00000274386 ∙ NCBI:100129924 ∙ ∙ HGNC:52381 ∙ Uniprot:A0A1B0GVZ9 ∙ 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 TMEM269 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM269 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			2			2
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in TMEM269

This is a list of pathogenic ClinVar variants found in the TMEM269 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-42789895-T-A		not specified	Uncertain significance (Aug 30, 2021)
1-42793739-C-T		not specified	Uncertain significance (Aug 30, 2021)
1-42794430-A-G		not specified	Uncertain significance (Aug 13, 2021)
1-42807456-C-G		Inborn genetic diseases	Uncertain significance (May 11, 2022)
1-42807460-T-C		Inborn genetic diseases	Uncertain significance (Aug 08, 2023)
1-42807469-A-G		SVBP-related disorder	Likely pathogenic (Apr 27, 2023)
1-42816438-CTT-C			Likely pathogenic (Dec 01, 2021)
1-42816441-T-C		Inborn genetic diseases	Uncertain significance (May 28, 2024)
1-42816450-T-C		Inborn genetic diseases	Uncertain significance (Jun 24, 2022)
1-42816454-G-C		Inborn genetic diseases	Uncertain significance (Jun 24, 2022)
1-42816463-G-A		Microcephaly;Intellectual disability;Lower limb spasticity • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	Pathogenic/Likely pathogenic (Dec 17, 2022)
1-42816502-ATTCT-A		Microcephaly;Intellectual disability;Lower limb spasticity • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly	Pathogenic (Apr 04, 2019)
1-42816516-G-GT			Uncertain significance (Dec 01, 2017)
1-42816517-T-C		Inborn genetic diseases	Uncertain significance (Aug 28, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

• Gene name: Tmem269

Gene ontology

• Cellular component: integral component of membrane