Variant (rsID / SNP)

rs137852309

rs137852309 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALAS2. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALAS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.21
HGVS: NM_000032.5(ALAS2):c.1570C>G (p.His524Asp)
Allele change: Missense_H511D

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.