CHKB-CPT1B

CHKB-CPT1B readthrough (NMD candidate)

Basic information

Region (hg38): 22:50568868-50582965

Links

ENSG00000254413 ∙ NCBI:386593 ∙ ∙ HGNC:41998 ∙ ∙ ∙ 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 CHKB-CPT1B gene.

• Megaconial type congenital muscular dystrophy (302 variants)
• Inborn genetic diseases (59 variants)
• not provided (56 variants)
• not specified (26 variants)
• CPT1B-related condition (2 variants)
• Congenital Muscular Dystrophy, CHKB-related (2 variants)
• High myopia (1 variants)
• Severe global developmental delay;Seizure (1 variants)
• CHKB-related condition (1 variants)
• Muscular dystrophy (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CHKB-CPT1B 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)	4	4	19	15	3	45
splice region						0
non coding	15	7	186	114	26	348
Total	19	11	205	129	29

Highest pathogenic variant AF is 0.0000197

Variants in CHKB-CPT1B

This is a list of pathogenic ClinVar variants found in the CHKB-CPT1B region.

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

Position	Type	Phenotype	Significance	ClinVar
22-50569343-T-G		not specified	Uncertain significance (Dec 09, 2023)
22-50569347-G-C			Benign (Aug 16, 2018)
22-50569348-G-A		not specified	Uncertain significance (Aug 13, 2021)
22-50569369-T-C		not specified	Uncertain significance (Dec 07, 2021)
22-50569412-G-A		not specified	Uncertain significance (Jan 26, 2022)
22-50569577-G-A		not specified	Uncertain significance (May 05, 2023)
22-50570351-C-T		not specified	Uncertain significance (Aug 10, 2021)
22-50570363-TG-T		CPT1B-related disorder	Uncertain significance (Mar 09, 2023)
22-50570371-C-G		not specified	Uncertain significance (Feb 01, 2023)
22-50570881-C-T		CPT1B-related disorder	Likely benign (Sep 08, 2022)
22-50570914-C-G		not specified	Uncertain significance (Nov 17, 2022)
22-50570971-C-T		not specified	Uncertain significance (Mar 31, 2022)
22-50570977-T-C		not specified	Uncertain significance (Jan 04, 2024)
22-50570985-C-T		not specified	Uncertain significance (Aug 13, 2021)
22-50571058-T-C		not specified	Benign/Likely benign (-)
22-50571165-G-A		not specified	Uncertain significance (Dec 14, 2023)
22-50571172-C-T		not specified	Uncertain significance (Sep 20, 2022)
22-50571216-C-T		not specified	Uncertain significance (Aug 28, 2023)
22-50571240-C-G		not specified	Uncertain significance (Nov 22, 2021)
22-50571288-C-T		not specified	Likely benign (Apr 13, 2023)
22-50571432-C-A		not specified	Uncertain significance (May 16, 2022)
22-50571443-G-C		not specified	Uncertain significance (Dec 03, 2021)
22-50571473-A-C		not specified	Uncertain significance (Feb 27, 2023)
22-50571509-C-T		not specified	Uncertain significance (Jun 29, 2022)
22-50572089-A-G		not specified	Uncertain significance (Mar 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene ontology

• Biological process: phosphorylation;glycerophospholipid biosynthetic process
• Molecular function: kinase activity