Variant (rsID / SNP)

rs267607235

rs267607235 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,842,794. 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: 4:128842794
Cytoband: 4q28.2
HGVS: NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)
Allele change: Missense_P412L

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 7|Seizure|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.