GATA1 NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)

CI-VAR-00081025Explore in graph →p.Ser30TerNM_002049.4:c.89C>GClinVar 465134 rs1557020021

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
465134	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Acute megakaryoblastic leukemia in down syndrome; Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	germline/somatic	2	Sep 01, 2020	clinvar