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
- Mannose-binding lectin deficiency
- Source Database
- ClinVar
- Description
- NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) AND Mannose-binding lectin deficiency
- 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
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-03-26
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015426
- ClinVar Disease
- Mannose-binding lectin deficiency
- Observed Origin Sample
- germline
- Pubmed
- 16912583
- Pubmed
- 8206524
Drugs