Variant (rsID / SNP)

rs367543017

rs367543017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,341,487. Clinical significance in the table: Pathogenic.

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Reference-table entries

BLMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:91341487
Cytoband: 15q26.1
HGVS: NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter)
Allele change: Nonsense_S718X

Associated conditions / phenotypes

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.