Variant (rsID / SNP)

rs797046075

rs797046075 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBB2B. Location: chromosome 6, position 3,226,031. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TUBB2BPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:3226031
Cytoband: 6p25.2
HGVS: NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)
Allele change: Missense_G98R

Associated conditions / phenotypes

Complex cortical dysplasia with other brain malformations 7

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.