UQCRHL

ubiquinol-cytochrome c reductase hinge protein like

Basic information

Region (hg38): 1:15807169-15809348

Links

ENSG00000233954 ∙ NCBI:440567 ∙ ∙ HGNC:51714 ∙ Uniprot:A0A096LP55 ∙ 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 UQCRHL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UQCRHL 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			11		1	12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	2

Variants in UQCRHL

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

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

Position	Type	Phenotype	Significance	ClinVar
1-15807406-C-T		not specified	Uncertain significance (Nov 21, 2023)
1-15807471-C-T		not specified	Uncertain significance (Aug 08, 2023)
1-15807479-T-C			Benign (Jul 21, 2018)
1-15807490-C-G		not specified	Uncertain significance (Jun 02, 2023)
1-15807492-T-C			Benign (Dec 31, 2019)
1-15807507-T-C		not specified	Uncertain significance (May 30, 2023)
1-15807510-C-T		not specified	Uncertain significance (Sep 15, 2021)
1-15807511-G-A		not specified	Uncertain significance (May 13, 2022)
1-15807516-T-A		not specified	Uncertain significance (Oct 06, 2021)
1-15807534-T-C		not specified	Uncertain significance (Sep 14, 2023)
1-15807565-G-A		not specified	Uncertain significance (Jun 16, 2023)
1-15807610-C-T		not specified	Uncertain significance (Jul 28, 2021)
1-15807621-A-G		not specified	Uncertain significance (Aug 10, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1. {ECO:0000250|UniProtKB:P00127}.
• Pathway: Cardiac muscle contraction - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Oxidative phosphorylation - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human) (Consensus)

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene ontology

• Biological process: mitochondrial electron transport, ubiquinol to cytochrome c;aerobic respiration
• Cellular component: mitochondrial respiratory chain complex III
• Molecular function: ubiquinol-cytochrome-c reductase activity