Variant (rsID / SNP)

rs55880859

rs55880859 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,312,426. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BLMUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:91312426
Cytoband: 15q26.1
HGVS: NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
Allele change: Missense_R416C

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Bloom syndrome|Hereditary breast ovarian cancer 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.