NM_014363.6(SACS):c.13487_13488del (p.Lys4495_Ser4496insTer) AND Spastic paraplegia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003043384.3
Allele description [Variation Report for NM_014363.6(SACS):c.13487_13488del (p.Lys4495_Ser4496insTer)]
NM_014363.6(SACS):c.13487_13488del (p.Lys4495_Ser4496insTer)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
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sugar hydrolase [Klebsiella sp. LY]
sugar hydrolase [Klebsiella sp. LY]gi|1552071624|gnl|PRJNA392024|CE636 5|gb|AZZ17009.1|Protein
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Drosophila melanogaster genome survey sequence T7 end of BAC BACN16H17 of DrosBA...
Drosophila melanogaster genome survey sequence T7 end of BAC BACN16H17 of DrosBAC library from Drosophila melanogaster (fruit fly), genomic survey sequencegi|5623630|emb|AL106752.1|Nucleotide
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LS215_RS12470 [Sulfolobus islandicus L.S.2.15]
LS215_RS12470 [Sulfolobus islandicus L.S.2.15]Gene ID:7796595Gene
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Last Updated: Sep 29, 2024