Variant (rsID / SNP)

rs28941475

rs28941475 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETX. Location: chromosome 9, position 135,224,808. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SETXLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:135224808
Cytoband: 9q34.13
HGVS: NM_015046.7(SETX):c.8C>T (p.Thr3Ile)
Allele change: Missense_T3I

Associated conditions / phenotypes

Amyotrophic lateral sclerosis type 4|Distal spinal muscular atrophy

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.