Variant (rsID / SNP)

rs387906889

rs387906889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AFG3L2. Location: chromosome 18, position 12,340,333. Clinical significance in the table: Pathogenic.

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Reference-table entries

AFG3L2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:12340333
Cytoband: 18p11.21
HGVS: NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys)
Allele change: Missense_Y616C

Associated conditions / phenotypes

Spastic ataxia 5

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.