Variant (rsID / SNP)

rs140202346

rs140202346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBA8. Location: chromosome 22, position 18,609,703. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TUBA8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:18609703
Cytoband: 22q11.21
HGVS: NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp)
Allele change: Missense_R320W

Associated conditions / phenotypes

Polymicrogyria with optic nerve hypoplasia

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.