Variant (rsID / SNP)

rs267607121

rs267607121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS6. Location: chromosome 22, position 37,494,466. Clinical significance in the table: Pathogenic.

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Reference-table entries

TMPRSS6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:37494466
Cytoband: 22q12.3
HGVS: NM_001374504.1(TMPRSS6):c.326C>A (p.Ala109Asp)
Allele change: Missense_A109D

Associated conditions / phenotypes

Iron-refractory iron deficiency anemia

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.