Variant (rsID / SNP)

rs1057517843

rs1057517843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBA1A. Location: chromosome 12, position 49,579,508. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TUBA1APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:49579508
Cytoband: 12q13.12
HGVS: NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)
Allele change: Missense_R179H

Associated conditions / phenotypes

Lissencephaly due to TUBA1A mutation|Tubulinopathies

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.