Annotation Detail
Information
- Associated Genes
- RAF1
- Associated Variants
-
RAF1 p.Leu633Val (p.L633V)
(
ENST00000687923.1,
ENST00000690460.1,
ENST00000251849.9,
ENST00000442415.7,
ENST00000685437.1,
ENST00000685653.1,
ENST00000688543.1,
ENST00000689389.1,
ENST00000690397.1,
ENST00000691899.1,
ENST00000692093.1,
ENST00000693312.1,
ENST00000676541.1,
ENST00000677142.1 )
RAF1 p.Ser257Leu (p.S257L) ( ENST00000442415.7, ENST00000251849.9, ENST00000685437.1, ENST00000685653.1, ENST00000687923.1, ENST00000688543.1, ENST00000689389.1, ENST00000690397.1, ENST00000690460.1, ENST00000691899.1, ENST00000692093.1, ENST00000693312.1 )
RAF1 p.Ser257Trp (p.S257W) ( ENST00000251849.9, ENST00000442415.7, ENST00000685437.1, ENST00000685653.1, ENST00000687923.1, ENST00000688543.1, ENST00000689389.1, ENST00000690397.1, ENST00000690460.1, ENST00000691899.1, ENST00000692093.1, ENST00000693312.1 )
RAF1 p.Leu633Val (p.L633V) ( ENST00000251849.9, ENST00000442415.7, ENST00000685437.1, ENST00000685653.1, ENST00000687923.1, ENST00000688543.1, ENST00000689389.1, ENST00000690397.1, ENST00000690460.1, ENST00000691899.1, ENST00000692093.1, ENST00000693312.1, ENST00000676541.1, ENST00000677142.1 )
RAF1 p.Ser257Leu (p.S257L) ( ENST00000251849.9, ENST00000442415.7, ENST00000685437.1, ENST00000685653.1, ENST00000687923.1, ENST00000688543.1, ENST00000689389.1, ENST00000690397.1, ENST00000690460.1, ENST00000691899.1, ENST00000692093.1, ENST00000693312.1 )
RAF1 p.Ser257Trp (p.S257W) ( ENST00000251849.9, ENST00000442415.7, ENST00000685437.1, ENST00000685653.1, ENST00000687923.1, ENST00000688543.1, ENST00000689389.1, ENST00000690397.1, ENST00000690460.1, ENST00000691899.1, ENST00000692093.1, ENST00000693312.1 ) - Associated Disease
- LEOPARD syndrome 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs