Variant (rsID / SNP)
rs755011754
rs755011754 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,878,751. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MFSD8Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Deletion
- Chromosome / position
- 4:128878751
- Cytoband
- 4q28.2
- HGVS
- NM_001371596.2(MFSD8):c.63-4del
Associated conditions / phenotypes
Neuronal ceroid lipofuscinosis 7|Late-infantile neuronal ceroid lipofuscinosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.