Annotation Detail
Information
- Associated Genes
- SLC6A2
- Associated Variants
-
SLC6A2 p.Thr429= (p.T429=)
(
ENST00000567238.1,
ENST00000568943.6,
ENST00000561820.5,
ENST00000219833.13,
ENST00000566163.5,
ENST00000414754.7,
ENST00000379906.6 )
SLC6A2 p.Thr429= (p.T429=) ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000561820.5, ENST00000566163.5, ENST00000567238.1, ENST00000568943.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001172501.3(SLC6A2):c.1287G>A (p.Thr429=) AND not provided
- ClinVar Allele ID
- 341872
- ClinVar RefSeq Alternation Syntax
- NM_001172501.3:c.1287G>A
- ClinVar RefSeq Alternation Syntax
- NM_001172504.1:c.1287G>A
- ClinVar RefSeq Alternation Syntax
- NM_001043.3:c.1287G>A
- ClinVar RefSeq Alternation Syntax
- NM_001172502.1:c.972G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-09-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001696433
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs