Variant (rsID / SNP)

rs587784483

rs587784483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBA1A. Location: chromosome 12, position 49,578,945. Clinical significance in the table: Pathogenic.

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Reference-table entries

TUBA1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:49578945
Cytoband: 12q13.12
HGVS: NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)
Allele change: Missense_R367C

Associated conditions / phenotypes

Lissencephaly due to TUBA1A mutation|Autosomal recessive limb-girdle muscular dystrophy type 2D|Tubulinopathies|Lissencephaly

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.