Variant (rsID / SNP)

rs117340996

rs117340996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBEAL2. Location: chromosome 3, position 47,042,552. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NBEAL2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:47042552
Cytoband: 3p21.31
HGVS: NM_015175.3(NBEAL2):c.4367G>A (p.Arg1456His)
Allele change: Missense_R1456H

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.