Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Met992del (p.M992del)
(
ENST00000356175.7,
ENST00000358273.9,
ENST00000691014.1,
ENST00000696138.1 )
NF1 p.Met992del (p.M992del) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- Cafe-au-lait macules with pulmonary stenosis
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.360542883744161
- Year of publication
- NA
Drugs