Variant (rsID / SNP)

rs201062903

rs201062903 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALAS2. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALAS2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.21
HGVS: NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)
Allele change: Missense_P507L

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.