Variant (rsID / SNP)

rs117412152

rs117412152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KANSL1. Location: chromosome 17, position 44,144,013. 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: 17:44144013
Cytoband: 17q21.31
HGVS: NM_015443.4(KANSL1):c.1738G>A (p.Val580Ile)
Allele change: Missense_V580I

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.