Variant (rsID / SNP)

rs886041013

rs886041013 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TUBB4A. Location: chromosome 19, position 6,495,569. 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: 19:6495569
Cytoband: 19p13.3
HGVS: NM_006087.4(TUBB4A):c.941C>T (p.Ala314Val)
Allele change: Missense_A359V

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.