Variant (rsID / SNP)

rs2230018

rs2230018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KDM6A. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KDM6ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys)
Allele change: Missense_T726K

Associated conditions / phenotypes

Kabuki syndrome 2

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.