Variant (rsID / SNP)

rs118203978

rs118203978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,864,984. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MFSD8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:128864984
Cytoband: 4q28.2
HGVS: NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys)
Allele change: Missense_Y121C

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 7

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.