Annotation Detail
Information
- Associated Genes
- MBL2
- Associated Variants
-
MBL2 p.Arg52Cys (p.R52C)
(
ENST00000675947.1,
ENST00000373968.3,
ENST00000674931.1 )
MBL2 p.Arg52Cys (p.R52C) ( ENST00000373968.3, ENST00000674931.1, ENST00000675947.1 ) - Associated Disease
- cystic fibrosis
- Source Database
- ClinVar
- Description
- NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) AND Cystic fibrosis
- ClinVar Allele ID
- 29391
- ClinVar RefSeq Alternation Syntax
- NM_000242.3:c.154C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378373.1:c.154C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378374.1:c.154C>T
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2019-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000991134
- ClinVar Disease
- Cystic fibrosis
- Observed Origin Sample
- germline
Drugs