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Variant (rsID / SNP)

rs117861188

SETX

rs117861188 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETX. Location: chromosome 9, position 135,211,747. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SETXConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:135211747
Cytoband
9q34.13
HGVS
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
Allele change
Missense_K218N

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Amyotrophic lateral sclerosis type 4|Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2|Hereditary spastic paraplegia

Public references

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