Variant (rsID / SNP)

rs28544073

rs28544073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,861,116. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MFSD8Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:128861116
Cytoband: 4q28.2
HGVS: NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)
Allele change: Missense_G197D

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 7|Seizure|Late-infantile neuronal ceroid lipofuscinosis

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.