Variant (rsID / SNP)

rs864321717

rs864321717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBB3. Location: chromosome 16, position 90,001,997. 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: 16:90001997
Cytoband: 16q24.3
HGVS: NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys)
Allele change: Missense_R308C

Associated conditions / phenotypes

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

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.