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Variant (rsID / SNP)

rs587784505

TUBB3

rs587784505 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBB3. Location: chromosome 16, position 90,001,151. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TUBB3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:90001151
Cytoband
16q24.3
HGVS
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)
Allele change
Missense_G26S

Associated conditions / phenotypes

Complex cortical dysplasia with other brain malformations 1|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

Public references

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