Variant (rsID / SNP)

rs112734134

rs112734134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MFSD8. Location: chromosome 4, position 128,861,050. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MFSD8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:128861050
Cytoband: 4q28.2
HGVS: NM_001371596.2(MFSD8):c.656T>C (p.Phe219Ser)
Allele change: Missense_F219S

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.