TMEM191B

transmembrane protein 191B

Basic information

Region (hg38): 22:18527802-18530573

Links

ENSG00000278558 ∙ NCBI:728229 ∙ ∙ HGNC:33600 ∙ Uniprot:P0C7N4 ∙ 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 TMEM191B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM191B 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				1		1
missense			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region						0
non coding						0
Total	0	0	20	2	0

Variants in TMEM191B

This is a list of pathogenic ClinVar variants found in the TMEM191B region.

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

Position	Type	Phenotype	Significance	ClinVar
22-18528036-G-A		not specified	Uncertain significance (Jul 20, 2021)
22-18528559-C-G		not specified	Uncertain significance (Aug 02, 2021)
22-18528577-C-G		not specified	Uncertain significance (Jan 10, 2023)
22-18528598-A-C		not specified	Uncertain significance (Feb 15, 2023)
22-18528606-C-T		not specified	Uncertain significance (Jan 30, 2025)
22-18528614-G-A		not specified	Uncertain significance (Mar 25, 2024)
22-18528623-G-A		not specified	Uncertain significance (Mar 07, 2024)
22-18528632-G-C		not specified	Uncertain significance (Apr 20, 2024)
22-18528665-C-A		not specified	Uncertain significance (Aug 22, 2023)
22-18528675-A-C		not specified	Uncertain significance (Apr 09, 2024)
22-18528683-G-T			Likely benign (Mar 01, 2024)
22-18528828-C-G		not specified	Uncertain significance (Apr 12, 2022)
22-18529078-A-G			Likely benign (Nov 01, 2022)
22-18529694-C-T		not specified	Uncertain significance (Nov 15, 2021)
22-18529943-G-C		not specified	Uncertain significance (Apr 07, 2023)
22-18529955-G-A		not specified	Uncertain significance (Oct 18, 2021)
22-18529959-T-C		not specified	Uncertain significance (Dec 19, 2022)
22-18529962-A-C		not specified	Uncertain significance (Feb 28, 2023)
22-18529968-G-A		not specified	Uncertain significance (Mar 13, 2023)
22-18529994-G-A		not specified	Uncertain significance (Feb 15, 2023)
22-18530001-C-A		not specified	Uncertain significance (Oct 29, 2021)
22-18530175-G-A		not specified	Uncertain significance (Jan 31, 2024)
22-18530180-C-G		not specified	Uncertain significance (Jan 18, 2025)
22-18530183-G-A		not specified	Uncertain significance (Mar 23, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Cellular component: integral component of membrane