Variant (rsID / SNP)

rs201853975

rs201853975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KNL1. Location: chromosome 15, position 40,921,518. 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: 15:40921518
Cytoband: 15q15.1
HGVS: NM_144508.5(KNL1):c.5631C>T (p.Leu1877=)
Allele change: Synonymous_L1903L

Associated conditions / phenotypes

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.