Variant (rsID / SNP)
rs587776935
rs587776935 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKT3. Location: chromosome 1, position 243,668,598. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
AKT3Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:243668598
- Cytoband
- 1q44
- HGVS
- NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
- Allele change
- Silent
Associated conditions / phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2|Macrocephaly|Capillary hemangioma|Global developmental delay|Polymicrogyria|Inborn genetic diseases|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.