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Variant (rsID / SNP)

rs606231451

TMEM240

rs606231451 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMEM240. Location: chromosome 1, position 1,470,752. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TMEM240Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:1470752
Cytoband
1p36.33
HGVS
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
Allele change
Missense_P170L

Associated conditions / phenotypes

Spinocerebellar ataxia type 21

Public references

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