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NM_002049.3(GATA1):c.94G>A (p.Val32Ile) AND multiple conditions

Significance: Uncertain significance
ClinVar: RCV000766096

Variant: NM_002049.3(GATA1):c.94G>A (p.Val32Ile)

Type: Variant
Allele: NM_002049.3(GATA1):c.94G>A (p.Val32Ile) 471610
Gene:
Type: single nucleotide variant
Location: ChrX: 48791203 - assembly GRCh38
ChrX: 48649610 - assembly GRCh37
References: dbSNP: 782698349

Conditions

Disease: Anemia without thromobocytopenia, X-linked
Disease: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
Disease: GATA-1-related thrombocytopenia with dyserythropoiesis
Disease: Complete trisomy 21 syndrome