Variant (rsID / SNP)
rs863225264
rs863225264 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTOR. Location: chromosome 1, position 11,190,804. Clinical significance in the table: Pathogenic.
Reference-table entries
MTORPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:11190804
- Cytoband
- 1p36.22
- HGVS
- NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)
- Allele change
- Missense_E1799K
Associated conditions / phenotypes
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|Inborn genetic diseases|Intellectual disability, severe|Rare genetic intellectual disability|CEBALID syndrome|Isolated focal cortical dysplasia type II|Intellectual disability
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.