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Variant (rsID / SNP)

rs144149294

SLC25A38

rs144149294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A38. Location: chromosome 3, position 39,431,961. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC25A38Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:39431961
Cytoband
3p22.1
HGVS
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)
Allele change
Missense_T80R

Associated conditions / phenotypes

X-linked sideroblastic anemia 1|Sideroblastic anemia 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.