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Variant (rsID / SNP)

rs148207416

SPTBN2

rs148207416 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTBN2. Location: chromosome 11, position 66,473,243. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPTBN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:66473243
Cytoband
11q13.2
HGVS
NM_006946.4(SPTBN2):c.1719C>T (p.His573=)
Allele change
Synonymous_H573H

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.