Variant (rsID / SNP)

rs202061995

rs202061995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL40. Location: chromosome 3, position 42,727,387. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KLHL40Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:42727387
Cytoband: 3p22.1
HGVS: NM_152393.4(KLHL40):c.277G>C (p.Glu93Gln)
Allele change: Missense_E93Q

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.