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Variant (rsID / SNP)

rs140542643

TSPEAR

rs140542643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSPEAR. Location: chromosome 21, position 45,987,803. 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
21:45987803
Cytoband
21q22.3
HGVS
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp)
Allele change
Missense_R57W

Public references

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