NM_030777.4(SLC2A10):c.144G>A (p.Glu48=) AND Arterial tortuosity syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002059035.12
Allele description [Variation Report for NM_030777.4(SLC2A10):c.144G>A (p.Glu48=)]
NM_030777.4(SLC2A10):c.144G>A (p.Glu48=)
Condition(s)
-
eukaryotic translation elongation factor 1 delta a (guanine nucleotide exchange ...
eukaryotic translation elongation factor 1 delta a (guanine nucleotide exchange protein) isoform X2 [Epinephelus lanceolatus]gi|1832644109|ref|XP_033506898.1|Protein
-
elongation factor 1-delta isoform X3 [Larimichthys crocea]
elongation factor 1-delta isoform X3 [Larimichthys crocea]gi|1108990940|ref|XP_019127741.1|Protein
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Last Updated: Aug 25, 2024