Annotation Detail
Information
- Associated Genes
- SPG7
- Associated Variants
-
SPG7 p.Gly577Ser (p.G577S)
(
ENST00000646716.1,
ENST00000645897.1,
ENST00000645818.2,
ENST00000644781.1,
ENST00000646303.1,
ENST00000645063.1,
ENST00000268704.7,
ENST00000643649.1,
ENST00000647079.1 )
SPG7 p.Gly577Ser (p.G577S) ( ENST00000268704.7, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 ) - Associated Disease
- hereditary spastic paraplegia 7
- Source Database
- ClinVar
- Description
- NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser) AND Hereditary spastic paraplegia 7
- ClinVar Allele ID
- 213641
- ClinVar RefSeq Alternation Syntax
- NM_003119.4:c.1729G>A
- ClinVar RefSeq Alternation Syntax
- NM_001363850.1:c.1729G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2013-08-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000198892
- ClinVar Disease
- Hereditary spastic paraplegia 7
- Observed Origin Sample
- unknown
Drugs