Variant (rsID / SNP)

rs139428292

rs139428292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBM8A. Location: chromosome 1, position 145,507,646. Clinical significance in the table: Pathogenic/Likely pathogenic; other.

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Reference-table entries

RBM8APathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic; other
Variant type: single nucleotide variant
Chromosome / position: 1:145507646
Cytoband: 1q21.1
HGVS: NM_005105.5(RBM8A):c.-21G>A
Allele change: Silent

Associated conditions / phenotypes

Radial aplasia-thrombocytopenia syndrome

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.