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Variant (rsID / SNP)

rs397514513

CYP2U1

rs397514513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP2U1. Location: chromosome 4, position 108,866,582. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CYP2U1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
4:108866582
Cytoband
4q25
HGVS
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)
Allele change
Missense_D316V

Associated conditions / phenotypes

Hereditary spastic paraplegia 56|Neurodegeneration|Global developmental delay|Spastic paraplegia

Public references

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