Variant (rsID / SNP)

rs148588727

rs148588727 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCARB2. Location: chromosome 4, position 77,095,377. 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: 4:77095377
Cytoband: 4q21.1
HGVS: NM_005506.4(SCARB2):c.914C>T (p.Thr305Met)
Allele change: Missense_T162M

Associated conditions / phenotypes

Seizure|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.