Variant (rsID / SNP)

rs367579275

rs367579275 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL40. Location: chromosome 3, position 42,730,193. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

KLHL40Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:42730193
Cytoband: 3p22.1
HGVS: NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys)
Allele change: Missense_G469S

Associated conditions / phenotypes

Nemaline myopathy 8

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.