Variant (rsID / SNP)

rs28384988

rs28384988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,292,908. 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: 15:91292908
Cytoband: 15q26.1
HGVS: NM_000057.4(BLM):c.410A>G (p.Lys137Arg)
Allele change: Silent

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Bloom 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.