Annotation Detail
Information
- Associated Genes
- ACVRL1
- Associated Variants
-
ACVRL1 p.Gly48_Ala49delinsGluPro (p.G48_A49delinsEP)
(
ENST00000552678.2,
ENST00000547400.6,
ENST00000713619.1,
ENST00000419526.6,
ENST00000388922.9,
ENST00000550683.5,
ENST00000551576.6 )
ACVRL1 p.Gly48_Ala49delinsGluPro (p.G48_A49delinsEP) ( ENST00000388922.9, ENST00000419526.6, ENST00000547400.6, ENST00000550683.5, ENST00000551576.6, ENST00000552678.2, ENST00000713619.1 ) - Associated Disease
- Telangiectasia, hereditary hemorrhagic, type 2
- Source Database
- ClinVar
- Description
- NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) AND Telangiectasia, hereditary hemorrhagic, type 2
- ClinVar Allele ID
- 23286
- ClinVar RefSeq Alternation Syntax
- NM_000020.3:c.143_147delinsAGCCT
- ClinVar RefSeq Alternation Syntax
- NM_001077401.2:c.143_147delinsAGCCT
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008731
- ClinVar Disease
- Telangiectasia, hereditary hemorrhagic, type 2
- Observed Origin Sample
- germline
- Pubmed
- 10767348
Drugs