Annotation Detail
Information
- Associated Genes
- SPG7
- Associated Variants
-
SPG7 p.Leu78Ter (p.L78*)
(
ENST00000645897.1,
ENST00000643307.1,
ENST00000646716.1,
ENST00000644781.1,
ENST00000645818.2,
ENST00000645063.1,
ENST00000268704.7,
ENST00000646303.1,
ENST00000647079.1,
ENST00000341316.6,
ENST00000643649.1 )
SPG7 p.Leu78Ter (p.L78*) ( ENST00000268704.7, ENST00000341316.6, ENST00000643307.1, ENST00000643649.1, ENST00000644781.1, ENST00000645063.1, ENST00000645818.2, ENST00000645897.1, ENST00000646303.1, ENST00000646716.1, ENST00000647079.1 ) - Associated Disease
- Proximal spinal muscular atrophy
- Source Database
- ClinVar
- Description
- NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) AND Proximal spinal muscular atrophy
- ClinVar Allele ID
- 21855
- ClinVar RefSeq Alternation Syntax
- NM_001363850.1:c.233T>A
- ClinVar RefSeq Alternation Syntax
- NM_199367.3:c.233T>A
- ClinVar RefSeq Alternation Syntax
- NM_003119.4:c.233T>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-04-26
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000664258
- ClinVar Disease
- Proximal spinal muscular atrophy
- Observed Origin Sample
- unknown
Drugs