Variant (rsID / SNP)

rs28763868

rs28763868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL41. Location: chromosome 2, position 170,367,099. 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: 2:170367099
Cytoband: 2q31.1
HGVS: NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr)
Allele change: Missense_A271T

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.