Variant (rsID / SNP)

rs121918367

rs121918367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC11A2. Location: chromosome 12, position 51,392,997. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC11A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:51392997
Cytoband: 12q13.12
HGVS: NM_000617.3(SLC11A2):c.635G>T (p.Gly212Val)
Allele change: Missense_G212V

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.