Variant (rsID / SNP)

rs121908613

rs121908613 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP7B1. Location: chromosome 8, position 65,528,273. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYP7B1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:65528273
Cytoband: 8q12.3
HGVS: NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)
Allele change: Nonsense_Y275X

Associated conditions / phenotypes

Hereditary spastic paraplegia 5A|Hereditary spastic paraplegia|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.