Annotation Detail
Information
- Associated Genes
- MBL2
- Associated Variants
-
MBL2 p.Gly54Asp (p.G54D)
(
ENST00000674931.1,
ENST00000373968.3,
ENST00000675947.1 )
MBL2 p.Gly54Asp (p.G54D) ( ENST00000373968.3, ENST00000674931.1, ENST00000675947.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) AND not specified
- ClinVar Allele ID
- 29389
- ClinVar RefSeq Alternation Syntax
- NM_001378374.1:c.161G>A
- ClinVar RefSeq Alternation Syntax
- NM_000242.3:c.161G>A
- ClinVar RefSeq Alternation Syntax
- NM_001378373.1:c.161G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-10-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001777138
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs