Variant (rsID / SNP)

rs200053119

rs200053119 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCARB2. Location: chromosome 4, position 77,102,169. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SCARB2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:77102169
Cytoband: 4q21.1
HGVS: NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)
Allele change: Silent

Associated conditions / phenotypes

Action myoclonus-renal failure syndrome|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.