NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile) AND L2HGDH-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 2, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003960169.1
Allele description [Variation Report for NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile)]
NM_024884.3(L2HGDH):c.137C>T (p.Thr46Ile)
Condition(s)
- Name:
- L2HGDH-related disorder
- Synonyms:
- L2HGDH-related condition
- Identifiers:
-
PREDICTED: Homo sapiens sidekick cell adhesion molecule 2 (SDK2), transcript var...
PREDICTED: Homo sapiens sidekick cell adhesion molecule 2 (SDK2), transcript variant X3, mRNAgi|2217312561|ref|XM_047436313.1|Nucleotide
-
PubChem Substance Links for Gene (Select 27286) (91)
PubChem Substance
-
sushi repeat-containing protein SRPX2 precursor [Homo sapiens]
sushi repeat-containing protein SRPX2 precursor [Homo sapiens]gi|7657619|ref|NP_055282.1|Protein
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Last Updated: May 26, 2024