Variant (rsID / SNP)

rs760224197

rs760224197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KANSL1. Location: chromosome 17, position 44,116,529. Clinical significance in the table: Likely benign.

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Reference-table entries

KANSL1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:44116529
Cytoband: 17q21.31
HGVS: NM_015443.4(KANSL1):c.2256C>T (p.Asp752=)
Allele change: Synonymous_D752D

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.