Variant (rsID / SNP)

rs397514628

rs397514628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KDM6A. Clinical significance in the table: Pathogenic.

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Reference-table entries

KDM6APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter)
Allele change: Nonsense_R519X

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.