Variant (rsID / SNP)

rs398123714

rs398123714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,425,776. 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: 12:49425776
Cytoband: 12q13.12
HGVS: NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys)
Allele change: Missense_R4238C

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.