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Variant (rsID / SNP)

rs147159813

SCARB2

rs147159813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCARB2. Location: chromosome 4, position 77,100,837. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SCARB2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:77100837
Cytoband
4q21.1
HGVS
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
Allele change
Silent

Associated conditions / phenotypes

Seizure|Action myoclonus-renal failure syndrome|Progressive myoclonic epilepsy

Public references

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