Variant (rsID / SNP)

rs143518519

rs143518519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCARB2. Location: chromosome 4, position 77,100,796. 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: 4:77100796
Cytoband: 4q21.1
HGVS: NM_005506.4(SCARB2):c.486C>T (p.Ala162=)
Allele change: Silent

Associated conditions / phenotypes

Progressive myoclonic epilepsy

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.