Variant (rsID / SNP)

rs201083879

rs201083879 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KANSL1. Location: chromosome 17, position 44,108,990. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KANSL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:44108990
Cytoband: 17q21.31
HGVS: NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg)
Allele change: Missense_Q1057R

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.