Variant (rsID / SNP)

rs367543036

rs367543036 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,306,388. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

BLMLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:91306388
Cytoband: 15q26.1
HGVS: NM_000057.4(BLM):c.2074+1G>T
Allele change: Silent

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.