Variant (rsID / SNP)
rs398123716
rs398123716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2D. Location: chromosome 12, position 49,425,456. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
KMT2DPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 12:49425456
- Cytoband
- 12q13.12
- HGVS
- NM_003482.4(KMT2D):c.13032del (p.Lys4345fs)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.