Variant (rsID / SNP)

rs1057516964

rs1057516964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,303,887. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BLMPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:91303887
Cytoband: 15q26.1
HGVS: NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
Allele change: Nonsense_W53X

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.