Annotation Detail
Information
- Associated Genes
- TMEM67
- Associated Variants
-
TMEM67 c.2322+5delG
(
ENST00000409623.8,
ENST00000452276.6,
ENST00000453321.8,
ENST00000453906.6,
ENST00000519845.5,
ENST00000520680.2,
ENST00000521517.6,
ENST00000682036.1,
ENST00000683362.1,
ENST00000684064.1,
ENST00000684343.1 )
TMEM67 c.2322+5delG ( ENST00000409623.8, ENST00000452276.6, ENST00000453321.8, ENST00000453906.6, ENST00000519845.5, ENST00000520680.2, ENST00000521517.6, ENST00000682036.1, ENST00000683362.1, ENST00000684064.1, ENST00000684343.1 ) - Associated Disease
- Joubert syndrome 6
- Source Database
- ClinVar
- Description
- NM_153704.6(TMEM67):c.2322+5del AND Joubert syndrome 6
- ClinVar Allele ID
- 214289
- ClinVar RefSeq Alternation Syntax
- NM_153704.6:c.2322+5del
- ClinVar RefSeq Alternation Syntax
- NM_001142301.1:c.2079+5del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-02-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000201630
- ClinVar Disease
- Joubert syndrome 6
- Observed Origin Sample
- unknown
Drugs