Variant (rsID / SNP)

rs724159971

rs724159971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,841,898. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MFSD8Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:128841898
Cytoband: 4q28.2
HGVS: NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)
Allele change: Nonsense_R482X

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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