Variant (rsID / SNP)

rs141353229

rs141353229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KDM6A. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KDM6ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met)
Allele change: Missense_T584M

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.