Annotation Detail
Information
- Associated Genes
- MBD4
- Associated Variants
-
MBD4 p.Glu346Lys (p.E346K)
(
ENST00000249910.5,
ENST00000393278.6,
ENST00000429544.7,
ENST00000503197.5,
ENST00000507208.1 )
MBD4 p.Glu346Lys (p.E346K) ( ENST00000249910.5, ENST00000393278.6, ENST00000429544.7, ENST00000503197.5, ENST00000507208.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001276270.2(MBD4):c.1036G>A (p.Glu346Lys) AND not provided
- ClinVar Allele ID
- 1255683
- ClinVar RefSeq Alternation Syntax
- NM_003925.3:c.1036G>A
- ClinVar RefSeq Alternation Syntax
- NM_001276273.2:c.247+1200G>A
- ClinVar RefSeq Alternation Syntax
- NM_001276270.2:c.1036G>A
- ClinVar RefSeq Alternation Syntax
- NM_001276271.2:c.1036G>A
- ClinVar RefSeq Alternation Syntax
- NM_001276272.2:c.1036G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001670317
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs