rs141305388

This variant is located in the ALAS2 gene.

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ClinVar annotation

Likely Benign★★★☆
5 submitters2 publications

not specified; X-linked sideroblastic anemia 1; not provided; ALAS2-related disorder

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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.

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