CHKB-CPT1B

CHKB-CPT1B readthrough (NMD candidate)

Basic information

Region (hg38): 22:50568869-50582965

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. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	4	4	19	15	3	45
Total	4	4	19	15	3

Highest pathogenic variant AF is 0.0000197106

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