Annotation Detail
Information
- Associated Genes
- FAT4
- Associated Variants
-
FAT4 p.Cys4161Phe (p.C4161F)
(
ENST00000335110.5,
ENST00000394329.9,
ENST00000674496.2 )
FAT4 p.Cys4161Phe (p.C4161F) ( ENST00000335110.5, ENST00000394329.9, ENST00000674496.2 ) - Associated Disease
- Van Maldergem syndrome 2
- Source Database
- ClinVar
- Description
- NM_001291303.3(FAT4):c.12482G>T (p.Cys4161Phe) AND Van Maldergem syndrome 2
- ClinVar Allele ID
- 94558
- ClinVar RefSeq Alternation Syntax
- NM_024582.6:c.12476G>T
- ClinVar RefSeq Alternation Syntax
- NM_001291303.3:c.12482G>T
- ClinVar RefSeq Alternation Syntax
- NM_001291285.3:c.12482G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000074488
- ClinVar Disease
- Van Maldergem syndrome 2
- Observed Origin Sample
- germline
- Pubmed
- 24056717
- Pubmed
- 22473091
Drugs