Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

CHKB

choline kinase beta

Chromosome
22
Cytoband
22q13.33
Variants (rsID)
7

CHKB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q13.33). Its official name is “choline kinase beta”. The reference table lists 7 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

7 reference-table entries with clinical significance.

  • rs138205828Benignsingle nucleotide variantMegaconial type congenital muscular dystrophy
  • rs180979987Benignsingle nucleotide variantMegaconial type congenital muscular dystrophy
  • rs367729011Benignsingle nucleotide variantMegaconial type congenital muscular dystrophy
  • rs41282357Benignsingle nucleotide variantMegaconial type congenital muscular dystrophy
  • rs141934594Conflicting interpretationssingle nucleotide variantMegaconial type congenital muscular dystrophy
  • rs149858290Conflicting interpretationssingle nucleotide variantMegaconial type congenital muscular dystrophy
  • rs766816072Conflicting interpretationsDeletionCongenital Muscular Dystrophy, CHKB-related|Megaconial type congenital muscular dystrophy

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.