Variant (rsID / SNP)

rs201138924

rs201138924 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTBN2. Location: chromosome 11, position 66,454,622. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SPTBN2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:66454622
Cytoband: 11q13.2
HGVS: NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His)
Allele change: Missense_Y2247H

Associated conditions / phenotypes

Spinocerebellar ataxia type 5

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.