Variant (rsID / SNP)

rs56257041

rs56257041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,304,070. 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: 15:91304070
Cytoband: 15q26.1
HGVS: NM_000057.4(BLM):c.1467G>A (p.Arg489=)
Allele change: Synonymous_R114R

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.