Variant (rsID / SNP)

rs587783037

rs587783037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,346,807. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BLMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:91346807
Cytoband: 15q26.1
HGVS: NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)
Allele change: Nonsense_R764X

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.