Variant (rsID / SNP)

rs151102020

rs151102020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBA8. Location: chromosome 22, position 18,609,712. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TUBA8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:18609712
Cytoband: 22q11.21
HGVS: NM_018943.3(TUBA8):c.967G>A (p.Val323Met)
Allele change: Missense_V323M

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.