Variant (rsID / SNP)

rs146266900

rs146266900 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL40. Location: chromosome 3, position 42,730,479. Clinical significance in the table: Benign.

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Reference-table entries

KLHL40Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:42730479
Cytoband: 3p22.1
HGVS: NM_152393.4(KLHL40):c.1540G>A (p.Val514Met)
Allele change: Missense_V514M

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.