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Variant (rsID / SNP)

rs115062978

SPTBN2

rs115062978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTBN2. Location: chromosome 11, position 66,461,666. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SPTBN2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:66461666
Cytoband
11q13.2
HGVS
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys)
Allele change
Missense_R1483C

Associated conditions / phenotypes

Autosomal dominant cerebellar ataxia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.