Variant (rsID / SNP)

rs28730867

rs28730867 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL41. Location: chromosome 2, position 170,366,296. 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: 2:170366296
Cytoband: 2q31.1
HGVS: NM_006063.3(KLHL41):c.8C>T (p.Ser3Phe)
Allele change: Missense_S3F

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.