Annotation Detail
Information
- Associated Genes
- RAF1
- Associated Variants
-
RAF1 p.Thr511Arg (p.T511R)
(
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.Thr511Arg (p.T511R) ( 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 ) - Associated Disease
- RASopathy
- Source Database
- ClinVar
- Description
- NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg) AND RASopathy
- ClinVar Allele ID
- 28998
- ClinVar RefSeq Alternation Syntax
- NM_001354693.3:c.1373C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354694.3:c.1289C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354692.3:c.1229C>G
- ClinVar RefSeq Alternation Syntax
- NR_148942.3:n.1801C>G
- ClinVar RefSeq Alternation Syntax
- NM_002880.4:c.1472C>G
- ClinVar RefSeq Alternation Syntax
- NR_148941.3:n.1862C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354691.3:c.1229C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354690.3:c.1472C>G
- ClinVar RefSeq Alternation Syntax
- NR_148940.3:n.1916C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354689.3:c.1532C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354695.3:c.1130C>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-11-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001229313
- ClinVar Disease
- RASopathy
- Observed Origin Sample
- germline
Drugs