NM_002049.4(GATA1):c.1152A>C (p.Gly384=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003793931.1
Allele description [Variation Report for NM_002049.4(GATA1):c.1152A>C (p.Gly384=)]
NM_002049.4(GATA1):c.1152A>C (p.Gly384=)
Condition(s)
- Name:
- Diamond-Blackfan anemia
- Synonyms:
- Blackfan Diamond syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015253; MeSH: D029503; MedGen: C1260899; Orphanet: 124; OMIM: PS105650; Human Phenotype Ontology: HP:0004810
- Name:
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
- Synonyms:
- GATA1-Related X-Linked Cytopenia
- Identifiers:
- MONDO: MONDO:0100089; MedGen: C1845837
-
Gene Links for GEO Profiles (Select 132657600) (1)
Gene
-
FERMT1 FERM domain containing kindlin 1 [Homo sapiens]
FERMT1 FERM domain containing kindlin 1 [Homo sapiens]Gene ID:55612Gene
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Last Updated: May 12, 2024