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Variant (rsID / SNP)

rs200591471

MFSD8

rs200591471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,861,029. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MFSD8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:128861029
Cytoband
4q28.2
HGVS
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr)
Allele change
Missense_I226T

Associated conditions / phenotypes

Seizure|Macular dystrophy with central cone involvement|Neuronal ceroid lipofuscinosis 7|Neuronal ceroid lipofuscinosis 7

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.