Variant (rsID / SNP)

rs116171274

rs116171274 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP7B1. Location: chromosome 8, position 65,509,264. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CYP7B1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:65509264
Cytoband: 8q12.3
HGVS: NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
Allele change: Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 5A|Spastic paraplegia|Hereditary spastic paraplegia

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.