Gene entry
KLHL40
kelch like family member 40
- Chromosome
- 3
- Cytoband
- 3p22.1
- Variants (rsID)
- 10
KLHL40 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p22.1). Its official name is “kelch like family member 40”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs146266900Benignsingle nucleotide variantNemaline myopathy 8
- rs202061995Benignsingle nucleotide variantNemaline myopathy 8
- rs339698Benignsingle nucleotide variant
- rs3888652Benignsingle nucleotide variant
- rs6805421Benignsingle nucleotide variantNemaline myopathy 8
- rs201856772Conflicting interpretationssingle nucleotide variantNemaline myopathy 8
- rs367579275Likely pathogenicsingle nucleotide variantNemaline myopathy 8
- rs144187563Uncertain significancesingle nucleotide variantNemaline myopathy 8
- rs146161469Uncertain significancesingle nucleotide variantNemaline myopathy 8
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.