Variant (rsID / SNP)

rs142062936

rs142062936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KANSL1. Location: chromosome 17, position 44,248,225. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KANSL1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:44248225
Cytoband: 17q21.31
HGVS: NM_015443.4(KANSL1):c.1285C>A (p.Pro429Thr)
Allele change: Missense_P429T

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.