Variant (rsID / SNP)

rs8040502

rs8040502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KNL1. Location: chromosome 15, position 40,915,190. Clinical significance in the table: Benign.

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Reference-table entries

KNL1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:40915190
Cytoband: 15q15.1
HGVS: NM_144508.5(KNL1):c.2728A>G (p.Arg910Gly)
Allele change: Missense_R936G

Associated conditions / phenotypes

Primary Microcephaly, Recessive|Microcephaly 4, primary, autosomal recessive

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.