Variant (rsID / SNP)

rs138244546

rs138244546 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FA2H. Location: chromosome 16, position 74,750,437. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FA2HBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:74750437
Cytoband: 16q23.1
HGVS: NM_024306.5(FA2H):c.847G>A (p.Val283Ile)
Allele change: Missense_V283I

Associated conditions / phenotypes

Hereditary spastic paraplegia 35|Spastic paraplegia

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.