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Variant (rsID / SNP)

rs181413143

NBEAL2

rs181413143 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBEAL2. Location: chromosome 3, position 47,047,500. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NBEAL2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:47047500
Cytoband
3p21.31
HGVS
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln)
Allele change
Missense_R2289Q

Associated conditions / phenotypes

Gray platelet syndrome|Thrombocytopenia|Abnormal bleeding

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.