Variant (rsID / SNP)

rs587777467

rs587777467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBB4A. Location: chromosome 19, position 6,502,219. Clinical significance in the table: Pathogenic.

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Reference-table entries

TUBB4APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:6502219
Cytoband: 19p13.3
HGVS: NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln)
Allele change: Missense_R47Q

Associated conditions / phenotypes

Hypomyelinating leukodystrophy 6

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.