Annotation Detail
Information
- Associated Genes
- TNXB
- Associated Variants
-
TNXB p.Gly2518Glu (p.G2518E)
(
ENST00000375244.7,
ENST00000644971.2,
ENST00000647633.1 )
TNXB p.Gly2518Glu (p.G2518E) ( ENST00000375244.7, ENST00000644971.2, ENST00000647633.1 ) - Associated Disease
- Ehlers-Danlos syndrome due to tenascin-X deficiency
- Source Database
- ClinVar
- Description
- NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu) AND Ehlers-Danlos syndrome due to tenascin-X deficiency
- ClinVar Allele ID
- 252289
- ClinVar RefSeq Alternation Syntax
- NM_001365276.2:c.7553G>A
- ClinVar RefSeq Alternation Syntax
- NM_019105.8:c.7553G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000987673
- ClinVar Disease
- Ehlers-Danlos syndrome due to tenascin-X deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs