Annotation Detail
Information
- Associated Genes
- CCNH RASA1
- Associated Variants
-
RASA1 p.Thr843Asn (p.T843N)
(
ENST00000456692.6,
ENST00000274376.11,
ENST00000506290.1,
ENST00000512763.5 )
RASA1 p.Thr843Asn (p.T843N) ( ENST00000512763.5, ENST00000274376.11, ENST00000456692.6, ENST00000506290.1 ) - Associated Disease
- Parkes Weber syndrome
- Source Database
- ClinVar
- Description
- NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) AND Parkes Weber syndrome
- ClinVar Allele ID
- 239862
- ClinVar RefSeq Alternation Syntax
- NM_001364075.2:c.933+15269G>T
- ClinVar RefSeq Alternation Syntax
- NM_022650.3:c.1997C>A
- ClinVar RefSeq Alternation Syntax
- NM_002890.3:c.2528C>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000325671
- ClinVar Disease
- Parkes Weber syndrome
- Observed Origin Sample
- germline
Drugs