Variant (rsID / SNP)

rs104894808

rs104894808 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.652G>T (p.Asp218Tyr)
Allele change: Missense_D218Y

Associated conditions / phenotypes

Thrombocytopenia, X-linked, with dyserythropoietic anemia|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.