Variant (rsID / SNP)

rs34922269

rs34922269 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KDM6A. Clinical significance in the table: Benign.

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Reference-table entries

KDM6ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_001291415.2(KDM6A):c.1897A>G (p.Thr633Ala)
Allele change: Missense_T581A

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.