Variant (rsID / SNP)

rs267607238

rs267607238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,416,084. Clinical significance in the table: Uncertain significance.

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Reference-table entries

KMT2DUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:49416084
Cytoband: 12q13.12
HGVS: NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met)
Allele change: Missense_T5464M

Associated conditions / phenotypes

Kabuki syndrome 1

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.