Variant (rsID / SNP)

rs724159970

rs724159970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,842,888. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MFSD8Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:128842888
Cytoband: 4q28.2
HGVS: NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter)
Allele change: Nonsense_E381X

Associated conditions / phenotypes

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