Variant (rsID / SNP)

rs115275192

rs115275192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,861,133. Clinical significance in the table: Benign.

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Reference-table entries

MFSD8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:128861133
Cytoband: 4q28.2
HGVS: NM_001371596.2(MFSD8):c.573A>G (p.Thr191_Phe192=)
Allele change: Synonymous_T191T

Associated conditions / phenotypes

Seizure|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.