Variant (rsID / SNP)

rs33931006

rs33931006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KNL1. Location: chromosome 15, position 40,914,831. 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: 15:40914831
Cytoband: 15q15.1
HGVS: NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser)
Allele change: Missense_T816S

Associated conditions / phenotypes

Primary Microcephaly, 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.