Variant (rsID / SNP)

rs794727688

rs794727688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,420,214. Clinical significance in the table: Pathogenic.

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Reference-table entries

KMT2DPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:49420214
Cytoband: 12q13.12
HGVS: NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys)
Allele change: Missense_R5179C

Associated conditions / phenotypes

Inborn genetic diseases|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.