Annotation Detail
Information
- Associated Genes
- WASHC5
- Associated Variants
-
WASHC5 p.Arg228Ter (p.R228*)
(
ENST00000318410.12,
ENST00000517845.5 )
WASHC5 p.Arg228Ter (p.R228*) ( ENST00000318410.12, ENST00000517845.5 ) - Associated Disease
- Ritscher-Schinzel syndrome 1 hereditary spastic paraplegia 8
- Source Database
- ClinVar
- Description
- NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) AND multiple conditions
- ClinVar Allele ID
- 564623
- ClinVar RefSeq Alternation Syntax
- NM_001330609.2:c.238C>T
- ClinVar RefSeq Alternation Syntax
- NM_014846.4:c.682C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-03-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000707560
- ClinVar Disease
- Hereditary spastic paraplegia 8
- ClinVar Disease
- Ritscher-Schinzel syndrome 1
- Observed Origin Sample
- germline
Drugs