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Variant (rsID / SNP)

rs483352809

TUBB4A

rs483352809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBB4A. Location: chromosome 19, position 6,495,765. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TUBB4APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:6495765
Cytoband
19p13.3
HGVS
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)
Allele change
Missense_D294N

Associated conditions / phenotypes

Hypomyelinating leukodystrophy 6|Torsion dystonia 4|Hypomyelinating leukodystrophy 6|Abnormality of the nervous system

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.