Variant (rsID / SNP)
rs72563785
rs72563785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NBN. Location: chromosome 8, position 90,955,519. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
NBNBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:90955519
- Cytoband
- 8q21.3
- HGVS
- NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)
- Allele change
- Missense_N634D
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Hereditary breast ovarian cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.