Variant (rsID / SNP)

rs747480526

rs747480526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBB3. Location: chromosome 16, position 90,001,392. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TUBB3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:90001392
Cytoband: 16q24.3
HGVS: NM_006086.4(TUBB3):c.533C>T (p.Thr178Met)
Allele change: Missense_T106M

Associated conditions / phenotypes

Complex cortical dysplasia with other brain malformations 1|Inborn genetic diseases

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.