Variant (rsID / SNP)
rs45479594
rs45479594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATA2. Location: chromosome 3, position 128,199,452. Clinical significance in the table: Benign.
Reference-table entries
GATA2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:128199452
- Cytoband
- 3q21.3
- HGVS
- NM_032638.5(GATA2):c.*410C>T
- Allele change
- Silent
Associated conditions / phenotypes
Deafness-lymphedema-leukemia syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.