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Variant (rsID / SNP)

rs138542210

BLM

rs138542210 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,292,676. 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
15:91292676
Cytoband
15q26.1
HGVS
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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