Variant (rsID / SNP)

rs140181991

rs140181991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KANSL1. Location: chromosome 17, position 44,248,710. Clinical significance in the table: Benign.

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Reference-table entries

KANSL1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:44248710
Cytoband: 17q21.31
HGVS: NM_015443.4(KANSL1):c.800A>G (p.Lys267Arg)
Allele change: Missense_K267R

Associated conditions / phenotypes

Koolen-de Vries syndrome

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.