Variant (rsID / SNP)

rs147706410

rs147706410 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,433,599. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

KMT2DBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:49433599
Cytoband: 12q13.12
HGVS: NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu)
Allele change: Missense_M2652L

Associated conditions / phenotypes

Kabuki syndrome 1|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.