Annotation Detail
Information
- Associated Genes
- CCNH RASA1
- Associated Variants
-
RASA1 p.Arg711Ter (p.R711*)
(
ENST00000274376.11,
ENST00000456692.6,
ENST00000506290.1,
ENST00000512763.5 )
RASA1 p.Arg711Ter (p.R711*) ( ENST00000274376.11, ENST00000456692.6, ENST00000506290.1, ENST00000512763.5 ) - Associated Disease
- Capillary malformation-arteriovenous malformation 1 Basal cell carcinoma, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) AND multiple conditions
- ClinVar Allele ID
- 209861
- ClinVar RefSeq Alternation Syntax
- NM_002890.3:c.2131C>T
- ClinVar RefSeq Alternation Syntax
- NM_001364075.2:c.933+18532G>A
- ClinVar RefSeq Alternation Syntax
- NM_022650.3:c.1600C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763548
- ClinVar Disease
- Basal cell carcinoma, susceptibility to, 1
- ClinVar Disease
- Capillary malformation-arteriovenous malformation 1
- Observed Origin Sample
- unknown
Drugs