NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter) AND Spastic paraplegia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 24, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000821707.7
Allele description [Variation Report for NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter)]
NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
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Triops cf. australiensis P.92069 cytochrome c oxidase subunit 1 (COI) gene, part...
Triops cf. australiensis P.92069 cytochrome c oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|1043221034|gb|KX162509.1|Nucleotide
-
wac [Escherichia phage ECD7]
wac [Escherichia phage ECD7]Gene ID:40077964Gene
-
wac [Acinetobacter phage ZZ1]
wac [Acinetobacter phage ZZ1]Gene ID:13165230Gene
-
Orthohantavirus tulaense isolate MarDFs28 nucleocapsid protein gene, partial cds
Orthohantavirus tulaense isolate MarDFs28 nucleocapsid protein gene, partial cdsgi|1583100574|gb|MK376838.1|Nucleotide
-
Orthohantavirus tulaense isolate MarCzNa15 nucleocapsid protein gene, partial cd...
Orthohantavirus tulaense isolate MarCzNa15 nucleocapsid protein gene, partial cdsgi|1583100444|gb|MK376773.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024