Annotation Detail
Information
- Associated Genes
- TSPAN12
- Associated Variants
-
TSPAN12 p.Leu245Pro (p.L245P)
(
ENST00000222747.8,
ENST00000415871.5 )
TSPAN12 p.Leu245Pro (p.L245P) ( ENST00000222747.8, ENST00000415871.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_012338.4(TSPAN12):c.734T>C (p.Leu245Pro) AND not provided
- ClinVar Allele ID
- 39963
- ClinVar RefSeq Alternation Syntax
- NM_012338.4:c.734T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-12-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001815170
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs