Variant (rsID / SNP)
rs80132640
rs80132640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,426,460. Clinical significance in the table: Benign.
Reference-table entries
KMT2DBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:49426460
- Cytoband
- 12q13.12
- HGVS
- NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro)
- Allele change
- Missense_S4010P
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.