Variant (rsID / SNP)

rs146161469

rs146161469 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL40. Location: chromosome 3, position 42,728,078. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KLHL40Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:42728078
Cytoband: 3p22.1
HGVS: NM_152393.4(KLHL40):c.968T>G (p.Ile323Ser)
Allele change: Missense_I323S

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.