Variant (rsID / SNP)

rs267607044

rs267607044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SETX. Location: chromosome 9, position 135,203,105. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SETXUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:135203105
Cytoband: 9q34.13
HGVS: NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys)
Allele change: Missense_R1294C

Associated conditions / phenotypes

Charcot-Marie-Tooth disease

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.