GUSBP11

GUSB pseudogene 11

Basic information

Region (hg38): 22:23659869-23717295

Links

ENSG00000272578 ∙ NCBI:91316 ∙ ∙ HGNC:42325 ∙ Uniprot:Q6P575 ∙ 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 GUSBP11 gene.

• Inborn genetic diseases (21 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GUSBP11 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			19	3		22
Total	0	0	19	3	0

Variants in GUSBP11

This is a list of pathogenic ClinVar variants found in the GUSBP11 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-23692166-T-C		not specified	Likely benign (Apr 22, 2022)
22-23692206-T-C		not specified	Uncertain significance (Oct 03, 2022)
22-23692208-C-T		not specified	Uncertain significance (Nov 14, 2023)
22-23692403-G-A		not specified	Uncertain significance (Nov 28, 2023)
22-23692414-C-T		not specified	Likely benign (Dec 20, 2023)
22-23692491-G-C		not specified	Uncertain significance (Mar 28, 2024)
22-23692695-G-A		not specified	Uncertain significance (Dec 21, 2023)
22-23692782-G-C		not specified	Uncertain significance (Apr 25, 2022)
22-23692828-C-T		not specified	Uncertain significance (Feb 06, 2024)
22-23692855-T-C		not specified	Uncertain significance (Apr 04, 2023)
22-23692882-C-T		not specified	Uncertain significance (May 09, 2023)
22-23692990-C-T		not specified	Uncertain significance (Aug 02, 2021)
22-23693775-T-C		not specified	Uncertain significance (Mar 11, 2024)
22-23693813-G-C		not specified	Likely benign (Apr 22, 2022)
22-23693831-G-A		not specified	Uncertain significance (Aug 10, 2021)
22-23693907-T-C		not specified	Uncertain significance (Nov 06, 2023)
22-23693931-G-A		not specified	Uncertain significance (May 17, 2023)
22-23693970-C-T		not specified	Uncertain significance (Jun 28, 2023)
22-23694349-G-C		not specified	Uncertain significance (Nov 13, 2023)
22-23694432-C-T		not specified	Uncertain significance (Jun 02, 2024)
22-23694960-A-G		not specified	Uncertain significance (Oct 06, 2023)
22-23694963-G-C		not specified	Uncertain significance (Apr 22, 2022)
22-23694982-A-G		not specified	Uncertain significance (Oct 29, 2021)
22-23694985-A-C		not specified	Uncertain significance (Feb 22, 2023)
22-23694991-C-T		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP