INO80B-WBP1

INO80B-WBP1 readthrough (NMD candidate)

Basic information

Region (hg38): 2:74455087-74460884

Links

ENSG00000274049 ∙ NCBI:100532735 ∙ ∙ HGNC:49199 ∙ ∙ ∙ 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 INO80B-WBP1 gene.

• Inborn genetic diseases (30 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the INO80B-WBP1 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			30			30
Total	0	0	30	0	0

Variants in INO80B-WBP1

This is a list of pathogenic ClinVar variants found in the INO80B-WBP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-74455138-G-A		not specified	Uncertain significance (Feb 10, 2022)
2-74455430-C-T		not specified	Uncertain significance (Jan 03, 2024)
2-74455433-G-A		not specified	Uncertain significance (Jun 02, 2023)
2-74455519-G-A		not specified	Uncertain significance (Feb 16, 2023)
2-74455546-C-T		not specified	Uncertain significance (Oct 05, 2023)
2-74456244-T-C		not specified	Uncertain significance (May 26, 2022)
2-74456249-G-A		not specified	Uncertain significance (Feb 15, 2023)
2-74457352-G-T		not specified	Uncertain significance (Jan 07, 2022)
2-74457356-G-A		not specified	Uncertain significance (Apr 19, 2023)
2-74457364-C-T		not specified	Uncertain significance (Dec 16, 2021)
2-74457370-C-T		not specified	Uncertain significance (Jan 12, 2024)
2-74457529-G-A		not specified	Uncertain significance (Apr 26, 2023)
2-74457563-C-T		not specified	Uncertain significance (Apr 07, 2023)
2-74457595-G-A		not specified	Uncertain significance (Apr 28, 2022)
2-74457607-A-T		not specified	Uncertain significance (Dec 07, 2021)
2-74457616-T-C		not specified	Uncertain significance (Feb 15, 2023)
2-74457695-C-G		not specified	Uncertain significance (Jun 02, 2023)
2-74457700-T-A		not specified	Uncertain significance (Aug 01, 2022)
2-74457706-C-G		not specified	Uncertain significance (May 18, 2022)
2-74457709-C-T		not specified	Uncertain significance (Apr 17, 2023)
2-74457712-C-T		not specified	Uncertain significance (Feb 14, 2023)
2-74457746-G-T		not specified	Uncertain significance (Aug 01, 2022)
2-74457854-T-G		not specified	Uncertain significance (Feb 05, 2024)
2-74458633-G-A		not specified	Uncertain significance (Oct 06, 2023)
2-74459676-C-T		not specified	Uncertain significance (Jun 26, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Biological process: chromatin remodeling
• Cellular component: Ino80 complex