Variant (rsID / SNP)

rs151344514

rs151344514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AFG3L2. Location: chromosome 18, position 12,337,519. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AFG3L2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:12337519
Cytoband: 18p11.21
HGVS: NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
Allele change: Missense_M666V

Associated conditions / phenotypes

Spinocerebellar ataxia type 28

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.