NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) AND Spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002537964.2
Allele description [Variation Report for NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)]
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
Human DNA sequence from clone RP11-42B19 on chromosome 10, complete sequence
Human DNA sequence from clone RP11-42B19 on chromosome 10, complete sequencegi|14141350|emb|AL358791.24|Nucleotide
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Last Updated: Sep 29, 2024