Variant (rsID / SNP)

rs187119131

rs187119131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TFR2. Location: chromosome 7, position 100,231,063. Clinical significance in the table: Likely benign.

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Reference-table entries

TFR2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:100231063
Cytoband: 7q22.1
HGVS: NM_003227.4(TFR2):c.590A>G (p.Tyr197Cys)
Allele change: Missense_Y197C

Associated conditions / phenotypes

Hereditary hemochromatosis

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.