Variant (rsID / SNP)

rs864321715

rs864321715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBB3. Location: chromosome 16, position 89,999,920. Clinical significance in the table: Pathogenic.

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Reference-table entries

TUBB3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:89999920
Cytoband: 16q24.3
HGVS: NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg)
Allele change: Silent

Associated conditions / phenotypes

Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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