rs137852305

This is a variant in the ALAS2 gene that changes a arginine to an cysteine.

▶

ClinVar annotation

Pathogenic★★★☆
3 submitters5 publications

X-linked sideroblastic anemia 1

View on ClinVar →

About ALAS2

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

View all ALAS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…