Variant (rsID / SNP)

rs56009845

rs56009845 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,354,520. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BLMBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:91354520
Cytoband: 15q26.1
HGVS: NM_000057.4(BLM):c.3960C>T (p.Pro1320=)
Allele change: Synonymous_P945P

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.