Variant (rsID / SNP)

rs587779884

rs587779884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,328,183. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BLMPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:91328183
Cytoband: 15q26.1
HGVS: NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
Allele change: Nonsense_R524X

Associated conditions / phenotypes

Bloom syndrome|Hereditary cancer-predisposing 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.