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Variant (rsID / SNP)

rs779594202

KANSL1

rs779594202 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KANSL1. Location: chromosome 17, position 44,249,010. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KANSL1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:44249010
Cytoband
17q21.31
HGVS
NM_015443.4(KANSL1):c.500A>G (p.His167Arg)
Allele change
Missense_H167R

Associated conditions / phenotypes

Koolen-de Vries syndrome

Public references

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