Variant (rsID / SNP)
rs377452989
rs377452989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,446,418. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KMT2DConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:49446418
- Cytoband
- 12q13.12
- HGVS
- NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg)
- Allele change
- Missense_P396R
Associated conditions / phenotypes
Kabuki syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.