Variant (rsID / SNP)
rs138845109
rs138845109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KMT2C. Location: chromosome 7, position 151,874,036. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
KMT2CConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:151874036
- Cytoband
- 7q36.1
- HGVS
- NM_170606.3(KMT2C):c.8502A>T (p.Glu2834Asp)
- Allele change
- Missense_E2834D
Associated conditions / phenotypes
atypical cerebral palsy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.