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Variant (rsID / SNP)

rs191789336

BLM

rs191789336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,310,239. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BLMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:91310239
Cytoband
15q26.1
HGVS
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)
Allele change
Missense_V390I

Associated conditions / phenotypes

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

Public references

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