Variant (rsID / SNP)

rs16885

rs16885 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATXN1. Location: chromosome 6, position 16,306,751. Clinical significance in the table: Likely benign.

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Reference-table entries

ATXN1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:16306751
Cytoband: 6p22.3
HGVS: NM_001128164.2(ATXN1):c.2257C>T (p.Pro753Ser)
Allele change: Missense_P753S

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.