Annotation Detail
Information
- Associated Genes
- TMEM231
- Associated Variants
-
TMEM231 p.Leu81Phe (p.L81F)
(
ENST00000568377.5,
ENST00000685935.1,
ENST00000693682.1,
ENST00000565067.5,
ENST00000258173.11 )
TMEM231 p.Leu81Phe (p.L81F) ( ENST00000258173.11, ENST00000565067.5, ENST00000568377.5, ENST00000685935.1, ENST00000693682.1 ) - Associated Disease
- Meckel syndrome, type 11 Joubert syndrome 20
- Source Database
- ClinVar
- Description
- NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) AND multiple conditions
- ClinVar Allele ID
- 439090
- ClinVar RefSeq Alternation Syntax
- NR_074083.2:n.284C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077416.2:c.400C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077418.3:c.241C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-12-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001865689
- ClinVar Disease
- Meckel syndrome, type 11
- ClinVar Disease
- Joubert syndrome 20
- Observed Origin Sample
- germline
Drugs