Annotation Detail
Information
- Associated Genes
- ACTA2
- Associated Variants
-
ACTA2 p.Arg179His (p.R179H)
(
ENST00000224784.10,
ENST00000458159.6,
ENST00000415557.2,
ENST00000371927.7,
ENST00000713597.1,
ENST00000713598.1,
ENST00000713599.1,
ENST00000713600.1,
ENST00000713601.1,
ENST00000713602.1 )
ACTA2 p.Arg179His (p.R179H) ( ENST00000713601.1, ENST00000224784.10, ENST00000415557.2, ENST00000458159.6, ENST00000713597.1, ENST00000713598.1, ENST00000713599.1, ENST00000713600.1, ENST00000713602.1, ENST00000371927.7 ) - Associated Disease
- Multisystemic smooth muscle dysfunction syndrome
- Source Database
- ClinVar
- Description
- NM_001613.4(ACTA2):c.536G>A (p.Arg179His) AND Multisystemic smooth muscle dysfunction syndrome
- ClinVar Allele ID
- 38552
- ClinVar RefSeq Alternation Syntax
- NM_001406468.1:c.407G>A
- ClinVar RefSeq Alternation Syntax
- NM_001141945.3:c.536G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406462.1:c.536G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406469.1:c.407G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406471.1:c.536G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406466.1:c.425G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406467.1:c.407G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406463.1:c.536G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406464.1:c.536G>A
- ClinVar RefSeq Alternation Syntax
- NM_001320855.2:c.536G>A
- ClinVar RefSeq Alternation Syntax
- NM_001613.4:c.536G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022437
- ClinVar Disease
- Multisystemic smooth muscle dysfunction syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
- Pubmed
- 10532176
- Pubmed
- 29300374
- Pubmed
- 15472996
- Pubmed
- 24998021
- Pubmed
- 20734336
- Pubmed
- 14730227
- Pubmed
- 20970362
- Pubmed
- 26034244
Drugs