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Variant (rsID / SNP)

rs371108710

KANSL1

rs371108710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KANSL1. Location: chromosome 17, position 44,117,165. 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
17:44117165
Cytoband
17q21.31
HGVS
NM_015443.4(KANSL1):c.2106G>C (p.Lys702Asn)
Allele change
Missense_K702N

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.