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Variant (rsID / SNP)

rs147632811

FA2H

rs147632811 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FA2H. Location: chromosome 16, position 74,773,946. 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
16:74773946
Cytoband
16q23.1
HGVS
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)
Allele change
Missense_R113Q

Associated conditions / phenotypes

Spastic paraplegia|Hereditary spastic paraplegia 35|Hereditary spastic paraplegia

Public references

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