Annotation Detail
Information
- Associated Genes
- TMPRSS6
- Associated Variants
-
TMPRSS6 p.Val749Ala (p.V749A)
(
ENST00000346753.9,
ENST00000381792.6,
ENST00000406725.6,
ENST00000406856.7,
ENST00000676104.1 )
TMPRSS6 p.Val749Ala (p.V749A) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000676104.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) AND not specified
- ClinVar Allele ID
- 257670
- ClinVar RefSeq Alternation Syntax
- NM_001374504.1:c.2180T>C
- ClinVar RefSeq Alternation Syntax
- NM_153609.4:c.2180T>C
- ClinVar RefSeq Alternation Syntax
- NM_001289000.2:c.2246T>C
- ClinVar RefSeq Alternation Syntax
- NM_001289001.2:c.2180T>C
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000246767
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs