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Variant (rsID / SNP)

rs118000312

CYP7B1

rs118000312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP7B1. Location: chromosome 8, position 65,508,862. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CYP7B1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:65508862
Cytoband
8q12.3
HGVS
NM_004820.5(CYP7B1):c.*337T>G
Allele change
Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 5A|Hereditary spastic paraplegia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.