Annotation Detail
Information
- Associated Genes
- TFR2 LOC113687175
- Associated Variants
-
TFR2 p.Arg678Pro (p.R678P)
(
ENST00000223051.8,
ENST00000431692.5,
ENST00000462107.1 )
TFR2 p.Arg678Pro (p.R678P) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 ) - Associated Disease
- hemochromatosis type 3
- Source Database
- ClinVar
- Description
- NM_003227.4(TFR2):c.2033G>C (p.Arg678Pro) AND Hemochromatosis type 3
- ClinVar Allele ID
- 186057
- ClinVar RefSeq Alternation Syntax
- NM_003227.4:c.2033G>C
- ClinVar RefSeq Alternation Syntax
- NM_001206855.3:c.1520G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-04-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001831985
- ClinVar Disease
- Hemochromatosis type 3
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs