NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu) AND Spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002569042.3
Allele description [Variation Report for NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu)]
NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
SSSM5_212 [Synechococcus phage S-SSM5]
SSSM5_212 [Synechococcus phage S-SSM5]Gene ID:10329154Gene
-
da92e10.y1 Xenopus laevis tadpole stage 24 Xenopus laevis cDNA 5', mRNA sequence
da92e10.y1 Xenopus laevis tadpole stage 24 Xenopus laevis cDNA 5', mRNA sequencegi|7696417|gnl|dbEST|4225515|gb|AW7 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024