Variant (rsID / SNP)
rs73302197
rs73302197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,434,746. 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
- 12:49434746
- Cytoband
- 12q13.12
- HGVS
- NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=)
- Allele change
- Synonymous_S2269S
Associated conditions / phenotypes
Kabuki syndrome 1|Kabuki syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.