Variant (rsID / SNP)

rs104894809

rs104894809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATA1. Clinical significance in the table: Pathogenic.

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Reference-table entries

GATA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
Allele change: Missense_R216Q

Associated conditions / phenotypes

Beta-thalassemia-X-linked thrombocytopenia syndrome|Diamond-Blackfan anemia|GATA binding protein 1 related thrombocytopenia with dyserythropoiesis|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.