Variant (rsID / SNP)
rs56383036
rs56383036 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,905,086. Clinical significance in the table: Pathogenic.
Reference-table entries
BRCA2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32905086
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.712G>T (p.Glu238Ter)
- Allele change
- Missense_E238Q
Associated conditions / phenotypes
Breast-ovarian cancer, familial, susceptibility to, 2|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.