Variant (rsID / SNP)

rs201526313

rs201526313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KANSL1. Location: chromosome 17, position 44,116,031. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KANSL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:44116031
Cytoband: 17q21.31
HGVS: NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr)
Allele change: Missense_M805T

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.