Variant (rsID / SNP)

rs41295942

rs41295942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TFR2. Location: chromosome 7, position 100,218,631. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TFR2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:100218631
Cytoband: 7q22.1
HGVS: NM_003227.4(TFR2):c.2255G>A (p.Arg752His)
Allele change: Missense_R752H

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.