Annotation Detail
Information
- Associated Genes
- IFIH1
- Associated Variants
-
IFIH1 p.Ala946Thr (p.A946T)
(
ENST00000648433.1,
ENST00000649979.2,
ENST00000679938.1 )
IFIH1 p.Ala946Thr (p.A946T) ( ENST00000648433.1, ENST00000649979.2, ENST00000679938.1 ) - Associated Disease
- Singleton-Merten syndrome 1
- Source Database
- ClinVar
- Description
- NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) AND Singleton-Merten syndrome 1
- ClinVar Allele ID
- 250306
- ClinVar RefSeq Alternation Syntax
- NM_022168.4:c.2836G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001701913
- ClinVar Disease
- Singleton-Merten syndrome 1
- Observed Origin Sample
- germline
Drugs