Variant (rsID / SNP)

rs387907040

rs387907040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FA2H. Location: chromosome 16, position 74,761,188. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FA2HConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:74761188
Cytoband: 16q23.1
HGVS: NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)
Allele change: Missense_R154C

Associated conditions / phenotypes

Hereditary spastic paraplegia 35

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.