Annotation Detail
Information
- Associated Genes
- RAF1
- Associated Variants
-
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.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 ) - Associated Disease
- LEOPARD syndrome 2 Noonan syndrome 5 dilated cardiomyopathy 1NN
- Source Database
- ClinVar
- Description
- NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) AND multiple conditions
- ClinVar Allele ID
- 28996
- ClinVar RefSeq Alternation Syntax
- NM_001354694.3:c.527C>T
- ClinVar RefSeq Alternation Syntax
- NM_002880.4:c.770C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354689.3:c.770C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354695.3:c.428C>T
- ClinVar RefSeq Alternation Syntax
- NR_148942.3:n.1101C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354690.3:c.770C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354691.3:c.527C>T
- ClinVar RefSeq Alternation Syntax
- NR_148941.3:n.1101C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354693.3:c.671C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354692.3:c.527C>T
- ClinVar RefSeq Alternation Syntax
- NR_148940.3:n.1101C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000515222
- ClinVar Disease
- LEOPARD syndrome 2
- ClinVar Disease
- Noonan syndrome 5
- ClinVar Disease
- Dilated cardiomyopathy 1NN
- Observed Origin Sample
- unknown
Drugs