NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) AND Spastic paraplegia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000230214.10
Allele description
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
602370947F1 NIH_MGC_92 Homo sapiens cDNA clone IMAGE:4479155 5', mRNA sequence
602370947F1 NIH_MGC_92 Homo sapiens cDNA clone IMAGE:4479155 5', mRNA sequencegi|12766553|gnl|dbEST|7831684|gb|BG 7.1|Nucleotide
-
602736014F1 NIH_MGC_49 Homo sapiens cDNA clone IMAGE:4861562 5', mRNA sequence
602736014F1 NIH_MGC_49 Homo sapiens cDNA clone IMAGE:4861562 5', mRNA sequencegi|14074831|gnl|dbEST|8524390|gb|BG 8.1|Nucleotide
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Results - Developing and Testing a Tool for the Classification of Study Designs ...
Results - Developing and Testing a Tool for the Classification of Study Designs in Systematic Reviews of Interventions and Exposures
-
HSCZXC072 normalized infant brain cDNA Homo sapiens cDNA clone c-zxc07 3', mRNA ...
HSCZXC072 normalized infant brain cDNA Homo sapiens cDNA clone c-zxc07 3', mRNA sequencegi|567685|gnl|dbEST|69128|emb|Z4153Nucleotide
-
Chain A, PROTEASE
Chain A, PROTEASEgi|4389337|pdb|1BAI|AProtein
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Last Updated: Sep 16, 2024