Variant (rsID / SNP)

rs78245253

rs78245253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATA2. Location: chromosome 3, position 128,204,693. Clinical significance in the table: Benign.

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Reference-table entries

GATA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:128204693
Cytoband: 3q21.3
HGVS: NM_032638.5(GATA2):c.748C>G (p.Pro250Ala)
Allele change: Missense_P250A

Associated conditions / phenotypes

Deafness-lymphedema-leukemia syndrome|Deafness-lymphedema-leukemia syndrome|Monocytopenia with susceptibility to infections

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.