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Variant (rsID / SNP)

rs41303899

TUBB1

rs41303899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBB1. Location: chromosome 20, position 57,598,808. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TUBB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:57598808
Cytoband
20q13.32
HGVS
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
Allele change
Missense_G109E

Associated conditions / phenotypes

Thrombocytopenia|Macrothrombocytopenia|Macrothrombocytopenia, isolated, 1, autosomal dominant

Public references

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