Variant (rsID / SNP)

rs1053338

rs1053338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATXN7. Location: chromosome 3, position 63,967,900. Clinical significance in the table: Likely benign.

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Reference-table entries

ATXN7Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:63967900
Cytoband: 3p14.1
HGVS: NM_001377405.1(ATXN7):c.791A>G (p.Lys264Arg)
Allele change: Missense_K264R

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.