Variant (rsID / SNP)
rs201373710
rs201373710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBEAL2. Location: chromosome 3, position 47,037,253. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NBEAL2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:47037253
- Cytoband
- 3p21.31
- HGVS
- NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg)
- Allele change
- Missense_G650R
Associated conditions / phenotypes
Gray platelet syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.