Variant (rsID / SNP)

rs202209383

rs202209383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBEAL2. Location: chromosome 3, position 47,036,825. Clinical significance in the table: Likely benign.

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Reference-table entries

NBEAL2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:47036825
Cytoband: 3p21.31
HGVS: NM_015175.3(NBEAL2):c.1600C>T (p.Arg534Cys)
Allele change: Missense_R534C

Associated conditions / phenotypes

Gray platelet 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.