Variant (rsID / SNP)
rs138437966
rs138437966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AP4M1, MCM7. Location: chromosome 7, position 99,700,565. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
AP4M1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:99700565
- Cytoband
- 7q22.1
- HGVS
- NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)
- Allele change
- Missense_E111D
Associated conditions / phenotypes
Hereditary spastic paraplegia 50
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.