Annotation Detail
Information
- Associated Genes
- IFIH1
- Associated Variants
-
IFIH1 p.His843Arg (p.H843R)
(
ENST00000648433.1,
ENST00000649979.2,
ENST00000679938.1 )
IFIH1 p.His843Arg (p.H843R) ( ENST00000648433.1, ENST00000649979.2, ENST00000679938.1 ) - Associated Disease
- Singleton-Merten syndrome 1
- Source Database
- ClinVar
- Description
- NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) AND Singleton-Merten syndrome 1
- ClinVar Allele ID
- 250307
- ClinVar RefSeq Alternation Syntax
- NM_022168.4:c.2528A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000986842
- ClinVar Disease
- Singleton-Merten syndrome 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs