Variant (rsID / SNP)

rs398123753

rs398123753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,434,958. Clinical significance in the table: Pathogenic.

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Reference-table entries

KMT2DPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 12:49434958
Cytoband: 12q13.12
HGVS: NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)

Associated conditions / phenotypes

Kabuki syndrome 1|Kabuki 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.