Variant (rsID / SNP)

rs201794205

rs201794205 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,443,558. Clinical significance in the table: Likely benign.

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Reference-table entries

KMT2DLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:49443558
Cytoband: 12q13.12
HGVS: NM_003482.4(KMT2D):c.3813A>G (p.Leu1271=)
Allele change: Synonymous_L1271L

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.