Variant (rsID / SNP)

rs369980078

rs369980078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A38. Location: chromosome 3, position 39,433,349. 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: 3:39433349
Cytoband: 3p22.1
HGVS: NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)
Allele change: Synonymous_G154G

Associated conditions / phenotypes

Sideroblastic anemia 2|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.