Variant (rsID / SNP)

rs201799139

rs201799139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALAS2. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ALAS2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp11.21
HGVS: NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe)
Allele change: Missense_S560F

Associated conditions / phenotypes

X-linked sideroblastic anemia 1

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.