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Variant (rsID / SNP)

rs201155045

GATA2

rs201155045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATA2. Location: chromosome 3, position 128,200,019. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GATA2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:128200019
Cytoband
3q21.3
HGVS
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)
Allele change
Missense_S429T

Associated conditions / phenotypes

Deafness-lymphedema-leukemia syndrome|Monocytopenia with susceptibility to infections|Deafness-lymphedema-leukemia syndrome|Monocytopenia with susceptibility to infections|Myelodysplastic syndrome|Acute myeloid leukemia|Deafness-lymphedema-leukemia syndrome|Deafness-lymphedema-leukemia syndrome|GATA2 deficiency with susceptibility to MDS/AML

Public references

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