Variant (rsID / SNP)

rs4820268

rs4820268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPRSS6. Location: chromosome 22, position 37,469,591. Clinical significance in the table: Benign.

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Reference-table entries

TMPRSS6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:37469591
Cytoband: 22q12.3
HGVS: NM_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=)
Allele change: Synonymous_D512D

Associated conditions / phenotypes

Microcytic anemia|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.