Annotation Detail
Information
- Associated Genes
- TSPAN12
- Associated Variants
-
TSPAN12 c.67-1G>C
(
ENST00000222747.8,
ENST00000415871.5 )
TSPAN12 c.67-1G>C ( ENST00000222747.8, ENST00000415871.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_012338.4(TSPAN12):c.67-1G>C AND not provided
- ClinVar Allele ID
- 132028
- ClinVar RefSeq Alternation Syntax
- NM_012338.4:c.67-1G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002513944
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs