Annotation Detail
Information
- Associated Genes
- TFR2
- Associated Variants
-
TFR2 p.Met172Lys (p.M172K)
(
ENST00000223051.8,
ENST00000431692.5,
ENST00000462107.1 )
TFR2 p.Met172Lys (p.M172K) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 ) - Associated Disease
- hemochromatosis type 3
- Source Database
- ClinVar
- Description
- NM_003227.4(TFR2):c.515T>A (p.Met172Lys) AND Hemochromatosis type 3
- ClinVar Allele ID
- 20421
- ClinVar RefSeq Alternation Syntax
- NM_001206855.3:c.2T>A
- ClinVar RefSeq Alternation Syntax
- NM_003227.4:c.515T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005713
- ClinVar Disease
- Hemochromatosis type 3
- Observed Origin Sample
- germline
- Pubmed
- 11313241
Drugs