Annotation Detail
Information
- Associated Genes
- GAN
- Associated Variants
-
GAN p.Tyr431= (p.Y431=)
(
ENST00000648994.2 )
GAN p.Tyr431= (p.Y431=) ( ENST00000648994.2 ) - Associated Disease
- giant axonal neuropathy 1
- Source Database
- ClinVar
- Description
- NM_022041.4(GAN):c.1293C>T (p.Tyr431=) AND Giant axonal neuropathy 1
- ClinVar Allele ID
- 134577
- ClinVar RefSeq Alternation Syntax
- NM_022041.4:c.1293C>T
- ClinVar RefSeq Alternation Syntax
- NM_001377486.1:c.654C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000396998
- ClinVar Disease
- Giant axonal neuropathy 1
- Observed Origin Sample
- germline
Drugs