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Variant (rsID / SNP)

rs11243731

SETX

rs11243731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETX. Location: chromosome 9, position 135,202,993. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SETXBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
9:135202993
Cytoband
9q34.13
HGVS
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)
Allele change
Missense_P1331L

Associated conditions / phenotypes

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

Public references

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