Annotation Detail
Information
- Associated Genes
- TCTN2
- Associated Variants
-
TCTN2 p.Pro296Leu (p.P296L)
(
ENST00000303372.7,
ENST00000679504.1,
ENST00000426174.6,
ENST00000680574.1 )
TCTN2 p.Pro296Leu (p.P296L) ( ENST00000303372.7, ENST00000426174.6, ENST00000679504.1, ENST00000680574.1 ) - Associated Disease
- Familial aplasia of the vermis Meckel-Gruber syndrome
- Source Database
- ClinVar
- Description
- NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) AND multiple conditions
- ClinVar Allele ID
- 329751
- ClinVar RefSeq Alternation Syntax
- NM_001143850.3:c.884C>T
- ClinVar RefSeq Alternation Syntax
- NM_024809.5:c.887C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-12-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001859841
- ClinVar Disease
- Familial aplasia of the vermis
- ClinVar Disease
- Meckel-Gruber syndrome
- Observed Origin Sample
- germline
Drugs