Variant (rsID / SNP)

rs146940902

rs146940902 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A38. Location: chromosome 3, position 39,433,037. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC25A38Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:39433037
Cytoband: 3p22.1
HGVS: NM_017875.4(SLC25A38):c.382A>G (p.Met128Val)
Allele change: Missense_M128V

Associated conditions / phenotypes

X-linked sideroblastic anemia 1|Sideroblastic anemia 2

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.