Variant (rsID / SNP)

rs113282510

rs113282510 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,445,669. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

KMT2DConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:49445669
Cytoband: 12q13.12
HGVS: NM_003482.4(KMT2D):c.1797G>A (p.Leu599=)
Allele change: Synonymous_L599L

Associated conditions / phenotypes

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.