NM_145166.4(ZBTB47):c.2039A>G (p.Glu680Gly) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 4, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003128219.1
Allele description [Variation Report for NM_145166.4(ZBTB47):c.2039A>G (p.Glu680Gly)]
NM_145166.4(ZBTB47):c.2039A>G (p.Glu680Gly)
Condition(s)
- Name:
- Seizure
- Synonyms:
- Seizures
- Identifiers:
- MedGen: C0036572; Human Phenotype Ontology: HP:0001250
- Name:
- Neurodevelopmental delay
- Identifiers:
- MedGen: C4022738; Human Phenotype Ontology: HP:0012758
-
api- eggc.vipj9M (45)
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Last Updated: Feb 14, 2024