Variant (rsID / SNP)
rs75039907
rs75039907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,842,000. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MFSD8Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:128842000
- Cytoband
- 4q28.2
- HGVS
- NM_001371596.2(MFSD8):c.1351-9C>A
- Allele change
- Silent
Associated conditions / phenotypes
Neuronal ceroid lipofuscinosis 7|Retinal dystrophy|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.