NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) AND Spastic paraplegia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001862751.4
Allele description [Variation Report for NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)]
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
protein zyg-11 homolog A isoform X8 [Homo sapiens]
protein zyg-11 homolog A isoform X8 [Homo sapiens]gi|2462509361|ref|XP_054192659.1|Protein
-
RNA-binding protein EWS isoform 3 [Homo sapiens]
RNA-binding protein EWS isoform 3 [Homo sapiens]gi|253970502|ref|NP_001156757.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024