Variant (rsID / SNP)

rs75937132

rs75937132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,430,947. 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: 12:49430947
Cytoband: 12q13.12
HGVS: NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val)
Allele change: Missense_M3398V

Associated conditions / phenotypes

Kabuki syndrome|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.