Variant (rsID / SNP)
rs41293511
rs41293511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,937,506. Clinical significance in the table: Pathogenic.
Reference-table entries
BRCA2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:32937506
- Cytoband
- 13q13.1
- HGVS
- NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
- Allele change
- Missense_D2723H
Associated conditions / phenotypes
Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary cancer-predisposing syndrome|8 conditions|Breast and/or ovarian cancer|Malignant tumor of breast|Carcinoma of pancreas
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.