Variant (rsID / SNP)
rs183176301
rs183176301 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLM. Location: chromosome 15, position 91,354,640. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
BLMBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:91354640
- Cytoband
- 15q26.1
- HGVS
- NM_000057.4(BLM):c.4076+4T>G
- Allele change
- Silent
Associated conditions / phenotypes
Bloom syndrome|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.