Variant (rsID / SNP)

rs147527225

rs147527225 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL41. Location: chromosome 2, position 170,366,940. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KLHL41Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:170366940
Cytoband: 2q31.1
HGVS: NM_006063.3(KLHL41):c.652G>A (p.Val218Met)
Allele change: Missense_V218M

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.