Annotation Detail
Information
- Associated Genes
- FAT4
- Associated Variants
-
FAT4 p.Glu2375Lys (p.E2375K)
(
ENST00000335110.5,
ENST00000394329.9,
ENST00000674496.2 )
FAT4 p.Glu2375Lys (p.E2375K) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 ) - Associated Disease
- Hennekam lymphangiectasia-lymphedema syndrome 2
- Source Database
- ClinVar
- Description
- NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys) AND Hennekam lymphangiectasia-lymphedema syndrome 2
- ClinVar Allele ID
- 94560
- ClinVar RefSeq Alternation Syntax
- NM_024582.6:c.7123G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291285.3:c.7123G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291303.3:c.7123G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144157
- ClinVar Disease
- Hennekam lymphangiectasia-lymphedema syndrome 2
- Observed Origin Sample
- germline
- Pubmed
- 24913602
- Pubmed
- 24056717
- Pubmed
- 22473091
- Pubmed
- 2624276
Drugs