Annotation Detail
Information
- Associated Genes
- TMPRSS6
- Associated Variants
-
TMPRSS6 p.Lys244Glu (p.K244E)
(
ENST00000346753.9,
ENST00000381792.6,
ENST00000406725.6,
ENST00000406856.7,
ENST00000442782.7,
ENST00000676104.1 )
TMPRSS6 p.Lys244Glu (p.K244E) ( ENST00000406725.6, ENST00000346753.9, ENST00000676104.1, ENST00000442782.7, ENST00000406856.7, ENST00000381792.6 ) - Associated Disease
- Iron-refractory iron deficiency anemia
- Source Database
- ClinVar
- Description
- NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu) AND Iron-refractory iron deficiency anemia
- ClinVar Allele ID
- 257676
- ClinVar RefSeq Alternation Syntax
- NM_001289000.2:c.730A>G
- ClinVar RefSeq Alternation Syntax
- NM_001289001.2:c.730A>G
- ClinVar RefSeq Alternation Syntax
- NM_001374504.1:c.730A>G
- ClinVar RefSeq Alternation Syntax
- NM_153609.4:c.730A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001838610
- ClinVar Disease
- Iron-refractory iron deficiency anemia
- Observed Origin Sample
- germline
Drugs