Variant (rsID / SNP)

rs28935484

rs28935484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALAS2. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALAS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.21
HGVS: NM_000032.5(ALAS2):c.569A>T (p.Asp190Val)
Allele change: Missense_D177V

Associated conditions / phenotypes

Anemia, hereditary sideroblastic 1, pyridoxine refractory

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.