NM_014363.6(SACS):c.598A>G (p.Ile200Val) AND Spastic paraplegia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001067073.6
Allele description [Variation Report for NM_014363.6(SACS):c.598A>G (p.Ile200Val)]
NM_014363.6(SACS):c.598A>G (p.Ile200Val)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
937258[uid] (1)
Taxonomy
-
Enterobacter kobei strain 4099 contig3, whole genome shotgun sequence
Enterobacter kobei strain 4099 contig3, whole genome shotgun sequencegi|2739068066|ref|NZ_JBDYGV01000000 gnl|WGS:NZ_JBDYGV01|contig3Nucleotide
-
Enterobacter kobei strain 2013594 contig00019, whole genome shotgun sequence
Enterobacter kobei strain 2013594 contig00019, whole genome shotgun sequencegi|2789934824|ref|NZ_JBFTVW01000001 gnl|WGS:NZ_JBFTVW01|contig00019Nucleotide
-
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2MedGen
-
C1836485[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024