Variant (rsID / SNP)

rs786204471

rs786204471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,310,196. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BLMPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Insertion
Chromosome / position: 15:91310196
Cytoband: 15q26.1
HGVS: NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)

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.