NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu) AND Lethal arthrogryposis-anterior horn cell disease syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 19, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000291023.6
Allele description [Variation Report for NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu)]
NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu)
Condition(s)
-
Streptomyces sp. AE35 16S ribosomal RNA gene, partial sequence
Streptomyces sp. AE35 16S ribosomal RNA gene, partial sequencegi|326485618|gb|JF292929.1|Nucleotide
-
PREDICTED: Momordica charantia CDP-diacylglycerol--glycerol-3-phosphate 3-phosph...
PREDICTED: Momordica charantia CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase 2 (LOC111010232), mRNAgi|1229772627|ref|XM_022283585.1|Nucleotide
-
WBSCR16 protein [Homo sapiens]
WBSCR16 protein [Homo sapiens]gi|21618592|gb|AAH32712.1|Protein
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Last Updated: Oct 8, 2024