Annotation Detail
Information
- Associated Genes
- SPG7
- Associated Variants
-
SPG7 p.Ala510Val (p.A510V)
(
ENST00000644781.1,
ENST00000645818.2,
ENST00000645897.1,
ENST00000646716.1,
ENST00000647079.1,
ENST00000643649.1,
ENST00000646303.1,
ENST00000268704.7,
ENST00000645063.1 )
SPG7 p.Ala510Val (p.A510V) ( 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.1529C>T (p.Ala510Val) AND Hereditary spastic paraplegia 7
- Observed Origin Sample
- inherited
- Observed Origin Sample
- maternal
- Observed Origin Sample
- paternal
- Observed Origin Sample
- unknown
- Pubmed
- 22571692
- Pubmed
- 20186691
- ClinVar Allele ID
- 51184
- ClinVar RefSeq Alternation Syntax
- NM_003119.4:c.1529C>T
- ClinVar RefSeq Alternation Syntax
- NM_001363850.1:c.1529C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-05-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000034858
- ClinVar Disease
- Hereditary spastic paraplegia 7
- Observed Origin Sample
- germline
Drugs