Variant (rsID / SNP)

rs139415849

rs139415849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL41. Location: chromosome 2, position 170,367,151. Clinical significance in the table: Benign.

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Reference-table entries

KLHL41Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:170367151
Cytoband: 2q31.1
HGVS: NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg)
Allele change: Missense_L288R

Associated conditions / phenotypes

Nemaline myopathy 9

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.