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Variant (rsID / SNP)

rs139469785

AFG3L2

rs139469785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AFG3L2. Location: chromosome 18, position 12,337,348. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AFG3L2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:12337348
Cytoband
18p11.21
HGVS
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
Allele change
Missense_V723M

Associated conditions / phenotypes

Spinocerebellar ataxia type 28|Spastic ataxia 5

Public references

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