rs80338885
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 1 | Likely miscall in DNA chip data; see text of main rs-page |
| (G;G) | 0 | common in clinvar |
| Make rs80338885(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 100628294 |
| Gene | TFR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338885 |
| dbSNP (classic) | rs80338885 |
| ClinGen | rs80338885 |
| ebi | rs80338885 |
| HLI | rs80338885 |
| Exac | rs80338885 |
| Gnomad | rs80338885 |
| Varsome | rs80338885 |
| LitVar | rs80338885 |
| Map | rs80338885 |
| PheGenI | rs80338885 |
| Biobank | rs80338885 |
| 1000 genomes | rs80338885 |
| hgdp | rs80338885 |
| ensembl | rs80338885 |
| geneview | rs80338885 |
| scholar | rs80338885 |
| rs80338885 | |
| pharmgkb | rs80338885 |
| gwascentral | rs80338885 |
| openSNP | rs80338885 |
| 23andMe | rs80338885 |
| SNPshot | rs80338885 |
| SNPdbe | rs80338885 |
| MSV3d | rs80338885 |
| GWAS Ctlg | rs80338885 |
| Max Magnitude | 1 |
aka c.1403G>A (p.Arg468His or R468H)
Considered to be a variant of uncertain significance by the (only) submitter to ClinVar; presumably a recessive mutation.
A survey of non-HFE HH mutations in large-scale sequencing databases concludes that they are likely to be very rare (with heterozygote carrier frequencies of perhaps 1 in 1000 and homozygote frequencies less than 1 in a million for most). Of note, rs80338885 was listed as one of the 49 TFR2 gene variants considered pathogenic in this survey but it was not observed in any sequence; this implies that the ~1 in 500 frequency heterozygote frequency observed in DNA chip data among Promethease users is too high to be credible.[PMID 26633544
]
| ClinVar | |
|---|---|
| Risk | rs80338885(A;A) |
| Alt | rs80338885(A;A) |
| Reference | Rs80338885(G;G) |
| Significance | Pathogenic |
| Disease | Hemochromatosis type 3 Hemochromatosis type 1 not specified |
| Variation | info |
| Gene | TFR2 |
| CLNDBN | Hemochromatosis type 3 Hemochromatosis type 1 not specified |
| Reversed | 1 |
| HGVS | NC_000007.13:g.100225917C>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020538.1, RCV000205036.1, RCV000260840.1, |
[PMID 17562347] A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.
