Variant (rsID / SNP)

rs77098161

rs77098161 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,851,902. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MFSD8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:128851902
Cytoband: 4q28.2
HGVS: NM_001371596.2(MFSD8):c.934A>G (p.Ile312Val)
Allele change: Missense_I312V

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 7|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.