SLC25A38 Chromosome 3

Solute carrier family 25 member 38
64 variants 64 Health Risk

Upload your DNA to see your personal genotypes for variants in SLC25A38.

What This Gene Does
This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
3p22.1
Ensembl
ENSG00000144659
Associated Conditions (3)
Sideroblastic anemia 2
Inborn genetic diseases
SLC25A38-related disorder
Key Variants
RS121918331
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS139671810
Conflicting classifications of pathogenicity
Health Risk
RS142420345
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS144149294
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Inborn genetic diseases, Sideroblastic anemia 2
Health Risk
RS149992222
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS2125580580
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS368989667
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS369980078
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS531290475
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, SLC25A38-related disorder, Sideroblastic anemia 2
Health Risk
RS61995897
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS73058292
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
RS755205622
Conflicting classifications of pathogenicity
Sideroblastic anemia 2, Sideroblastic anemia 2
Health Risk
All Variants (64)
RSID Category Clinical Significance Conditions
RS121918331 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2, Sideroblastic anemia 2
RS139671810 Health Risk Conflicting classifications of pathogenicity —
RS142420345 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS144149294 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Inborn genetic diseases, Sideroblastic anemia 2
RS149992222 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125580580 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS368989667 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS369980078 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS531290475 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, SLC25A38-related disorder, Sideroblastic anemia 2
RS61995897 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS73058292 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS755205622 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS763845960 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS765578993 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS767154505 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS781372292 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS1575247302 Health Risk Likely pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125578753 Health Risk Likely pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2, Sideroblastic anemia 2
RS2470551499 Health Risk Likely pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2470562327 Health Risk Likely pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1156987118 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1180926625 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1198314410 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1218815001 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS121918330 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS121918332 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1233124208 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1245684154 Health Risk Pathogenic —
RS1293528130 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1301033567 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1416227038 Health Risk Pathogenic —
RS1448237170 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2041767822 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2041767936 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2041768572 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2041773742 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125577893 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125578591 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125578633 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125578710 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125579714 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125579746 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125579866 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125579946 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125580030 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125580378 Health Risk Pathogenic —
RS2125580393 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125580560 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125580600 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125582750 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
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