Variant (rsID / SNP)

rs115874705

rs115874705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC11A2. Location: chromosome 12, position 51,393,007. Clinical significance in the table: Benign.

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Reference-table entries

SLC11A2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:51393007
Cytoband: 12q13.12
HGVS: NM_000617.3(SLC11A2):c.625G>A (p.Ala209Thr)
Allele change: Missense_A209T

Associated conditions / phenotypes

Microcytic anemia with liver iron overload

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.