Variant (rsID / SNP)

rs141726041

rs141726041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KNL1. Location: chromosome 15, position 40,916,632. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KNL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:40916632
Cytoband: 15q15.1
HGVS: NM_144508.5(KNL1):c.4170T>A (p.Asp1390Glu)
Allele change: Missense_D1416E

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.