Gene entry
MFSD8
major facilitator superfamily domain containing 8
- Chromosome
- 4
- Cytoband
- 4q28.2
- Variants (rsID)
- 17
MFSD8 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q28.2). Its official name is “major facilitator superfamily domain containing 8”. The reference table lists 17 variants (rsID) for this gene.
Clinically classified variants
16 reference-table entries with clinical significance.
- rs112721309Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 7|Late-infantile neuronal ceroid lipofuscinosis
- rs115275192Benignsingle nucleotide variantSeizure|Neuronal ceroid lipofuscinosis 7|Late-infantile neuronal ceroid lipofuscinosis
- rs145453022Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 7|Seizure|Late-infantile neuronal ceroid lipofuscinosis
- rs145529594Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 7|Seizure|Late-infantile neuronal ceroid lipofuscinosis
- rs28544073Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 7|Seizure|Late-infantile neuronal ceroid lipofuscinosis
- rs3733319Benignsingle nucleotide variantNeuronal ceroid lipofuscinosis 7|Seizure|Late-infantile neuronal ceroid lipofuscinosis
- rs150418024Conflicting interpretationssingle nucleotide variantMacular dystrophy with central cone involvement|Seizure|Neuronal ceroid lipofuscinosis 7|Late-infantile neuronal ceroid lipofuscinosis
- rs200591471Conflicting interpretationssingle nucleotide variantSeizure|Macular dystrophy with central cone involvement|Neuronal ceroid lipofuscinosis 7|Neuronal ceroid lipofuscinosis 7
- rs75039907Conflicting interpretationssingle nucleotide variantNeuronal ceroid lipofuscinosis 7|Retinal dystrophy|Late-infantile neuronal ceroid lipofuscinosis
- rs755011754Conflicting interpretationsDeletionNeuronal ceroid lipofuscinosis 7|Late-infantile neuronal ceroid lipofuscinosis
- rs267607235Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 7|Seizure|Neuronal ceroid lipofuscinosis
- rs724159970Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 7|Macular dystrophy with central cone involvement|Late-infantile neuronal ceroid lipofuscinosis
- rs724159971Pathogenicsingle nucleotide variantNeuronal ceroid lipofuscinosis 7|Neuronal ceroid lipofuscinosis 7|Macular dystrophy with central cone involvement
- rs112734134Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis 7|Late-infantile neuronal ceroid lipofuscinosis
- rs118203978Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis 7
- rs77098161Uncertain significancesingle nucleotide variantNeuronal ceroid lipofuscinosis 7|Late-infantile neuronal ceroid lipofuscinosis
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.