Variant (rsID / SNP)

rs144187563

rs144187563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL40. Location: chromosome 3, position 42,732,383. 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: 3:42732383
Cytoband: 3p22.1
HGVS: NM_152393.4(KLHL40):c.1640G>A (p.Arg547His)
Allele change: Missense_R547H

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.