Variant (rsID / SNP)

rs751827409

rs751827409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCARB2. Location: chromosome 4, position 77,084,505. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SCARB2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:77084505
Cytoband: 4q21.1
HGVS: NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln)
Allele change: Missense_R281Q

Associated conditions / phenotypes

Progressive myoclonic epilepsy|Seizure

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.