Variant (rsID / SNP)

rs200053955

rs200053955 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TFR2. Location: chromosome 7, position 100,225,705. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TFR2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:100225705
Cytoband: 7q22.1
HGVS: NM_003227.4(TFR2):c.1528G>A (p.Ala510Thr)
Allele change: Missense_A510T

Associated conditions / phenotypes

Hereditary hemochromatosis|Hemochromatosis type 3

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.