Annotation Detail
Information
- Associated Genes
- SLC6A2
- Associated Variants
-
SLC6A2 p.Ala457Pro (p.A457P)
(
ENST00000561820.5,
ENST00000568943.6,
ENST00000567238.1,
ENST00000379906.6,
ENST00000414754.7,
ENST00000219833.13,
ENST00000566163.5 )
SLC6A2 p.Ala457Pro (p.A457P) ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000561820.5, ENST00000566163.5, ENST00000567238.1, ENST00000568943.6 ) - Associated Disease
- neurocirculatory asthenia
- Source Database
- ClinVar
- Description
- NM_001172501.3(SLC6A2):c.1369G>C (p.Ala457Pro) AND Neurocirculatory asthenia
- ClinVar Allele ID
- 29045
- ClinVar RefSeq Alternation Syntax
- NM_001043.3:c.1369G>C
- ClinVar RefSeq Alternation Syntax
- NM_001172502.1:c.1054G>C
- ClinVar RefSeq Alternation Syntax
- NM_001172504.1:c.1369G>C
- ClinVar RefSeq Alternation Syntax
- NM_001172501.3:c.1369G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015043
- ClinVar Disease
- Neurocirculatory asthenia
- Observed Origin Sample
- germline
- Pubmed
- 11875370
- Pubmed
- 10684912
Drugs