Variant (rsID / SNP)

rs142551229

rs142551229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,310,209. 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: 15:91310209
Cytoband: 15q26.1
HGVS: NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
Allele change: Missense_K380E

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.