NM_000325.6(PITX2):c.*373GTT[1] AND Irido-corneo-trabecular dysgenesis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000405211.6
Allele description [Variation Report for NM_000325.6(PITX2):c.*373GTT[1]]
NM_000325.6(PITX2):c.*373GTT[1]
Condition(s)
- Name:
- Irido-corneo-trabecular dysgenesis (ASGD5)
- Synonyms:
- ANTERIOR SEGMENT DYSGENESIS 5
- Identifiers:
- MONDO: MONDO:0011414; MedGen: C0344559; Orphanet: 708; OMIM: 604229; Human Phenotype Ontology: HP:0000659
-
Bradyrhizobium embrapense strain SEMIA 6208 scaffold21.1, whole genome shotgun s...
Bradyrhizobium embrapense strain SEMIA 6208 scaffold21.1, whole genome shotgun sequencegi|1027764077|ref|NZ_LFIP02000021.1 |WGS:NZ_LFIP02|scaffold21.1Nucleotide
-
transmembrane protein 207 precursor [Homo sapiens]
transmembrane protein 207 precursor [Homo sapiens]gi|46409276|ref|NP_997199.1|Protein
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Last Updated: May 1, 2024