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Variant (rsID / SNP)

rs149481227

TSPEAR

rs149481227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSPEAR. Location: chromosome 21, position 45,949,803. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TSPEARConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:45949803
Cytoband
21q22.3
HGVS
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu)
Allele change
Missense_S223L

Public references

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