Annotation Detail
Information
- Associated Genes
- TSPAN12
- Associated Variants
-
TSPAN12 p.Gly188Arg (p.G188R)
(
ENST00000222747.8,
ENST00000415871.5 )
TSPAN12 p.Gly188Arg (p.G188R) ( ENST00000222747.8, ENST00000415871.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_012338.4(TSPAN12):c.562G>C (p.Gly188Arg) AND not provided
- ClinVar Allele ID
- 15359
- ClinVar RefSeq Alternation Syntax
- NM_012338.4:c.562G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-04-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002512602
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs