Variant (rsID / SNP)

rs121918680

rs121918680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TF. Location: chromosome 3, position 133,478,150. Clinical significance in the table: Pathogenic.

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Reference-table entries

TFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:133478150
Cytoband: 3q22.1
HGVS: NM_001063.4(TF):c.1180G>A (p.Glu394Lys)
Allele change: Missense_E350K

Associated conditions / phenotypes

Atransferrinemia

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.