TMEM247

transmembrane protein 247

Basic information

Region (hg38): 2:46479565-46484425

Links

ENSG00000284701 ∙ NCBI:388946 ∙ ∙ HGNC:42967 ∙ Uniprot:A6NEH6 ∙ 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 TMEM247 gene.

• Inborn genetic diseases (10 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM247 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in TMEM247

This is a list of pathogenic ClinVar variants found in the TMEM247 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-46479589-G-T		not specified	Uncertain significance (Dec 20, 2023)
2-46479620-G-A		not specified	Uncertain significance (Dec 21, 2023)
2-46479631-G-A		not specified	Uncertain significance (Dec 21, 2023)
2-46479657-G-T		not specified	Uncertain significance (Oct 06, 2021)
2-46480456-G-C		not specified	Uncertain significance (Nov 22, 2021)
2-46480477-T-C		not specified	Uncertain significance (Mar 28, 2022)
2-46480487-C-T		not specified	Uncertain significance (Jun 17, 2022)
2-46480517-G-A		not specified	Uncertain significance (Oct 18, 2021)
2-46480553-C-T		not specified	Likely benign (Sep 26, 2023)
2-46480562-T-C		not specified	Uncertain significance (Mar 07, 2024)
2-46480599-G-A		not specified	Uncertain significance (Dec 17, 2023)
2-46480613-T-A		not specified	Uncertain significance (Aug 02, 2023)
2-46480615-C-T		not specified	Uncertain significance (Mar 29, 2023)
2-46480622-A-C		not specified	Uncertain significance (Aug 04, 2023)
2-46480627-G-A		not specified	Uncertain significance (May 03, 2023)
2-46480688-T-C			Likely benign (Mar 01, 2023)
2-46480759-C-T		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tmem247
• Phenotype: normal phenotype

Gene ontology

• Cellular component: endoplasmic reticulum;integral component of membrane