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Variant (rsID / SNP)

rs377119798

CYP7B1

rs377119798 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP7B1. Location: chromosome 8, position 65,537,015. 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
8:65537015
Cytoband
8q12.3
HGVS
NM_004820.5(CYP7B1):c.204G>A (p.Arg68=)
Allele change
Synonymous_R68R

Associated conditions / phenotypes

Spastic paraplegia|Hereditary spastic paraplegia 5A

Public references

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