NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) AND Spastic paraplegia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000228863.18
Allele description [Variation Report for NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=)]
NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
mitochondrial phosphate carrier protein 3, mitochondrial isoform X2 [Oryza sativ...
mitochondrial phosphate carrier protein 3, mitochondrial isoform X2 [Oryza sativa Japonica Group]gi|2756252968|ref|XP_066164728.1|Protein
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Cymbacephalus staigeri isolate A490 16S ribosomal RNA gene, partial sequence; mi...
Cymbacephalus staigeri isolate A490 16S ribosomal RNA gene, partial sequence; mitochondrialgi|1003703162|gb|KT862599.1|Nucleotide
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PREDICTED: Glycine soja scarecrow-like protein 14 (LOC114377285), transcript var...
PREDICTED: Glycine soja scarecrow-like protein 14 (LOC114377285), transcript variant X1, mRNAgi|1590582486|ref|XM_028335731.1|Nucleotide
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RecName: Full=Phosphatidylinositol 3-kinase regulatory subunit gamma; Short=PI3-...
RecName: Full=Phosphatidylinositol 3-kinase regulatory subunit gamma; Short=PI3-kinase regulatory subunit gamma; Short=PI3K regulatory subunit gamma; Short=PtdIns-3-kinase regulatory subunit gamma; AltName: Full=Phosphatidylinositol 3-kinase 55 kDa regulatory subunit gamma; Short=PI3-kinase subunit p55-gamma; Short=PtdIns-3-kinase regulatory subunit p55-gamma; AltName: Full=p55PIKgi|46576679|sp|Q63789.1|P55G_RATProtein
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GSM869409[Accession] (4)
GEO DataSets
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Last Updated: Oct 8, 2024