Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs150418024

MFSD8

rs150418024 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,843,111. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MFSD8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:128843111
Cytoband
4q28.2
HGVS
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
Allele change
Missense_E336Q

Associated conditions / phenotypes

Macular dystrophy with central cone involvement|Seizure|Neuronal ceroid lipofuscinosis 7|Late-infantile neuronal ceroid lipofuscinosis

Public references

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