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Variant (rsID / SNP)

rs142872154

KNL1

rs142872154 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KNL1. Location: chromosome 15, position 40,947,173. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KNL1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:40947173
Cytoband
15q15.1
HGVS
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)
Allele change
Missense_D2187G

Associated conditions / phenotypes

Microcephaly 4, primary, autosomal recessive

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.