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Variant (rsID / SNP)

rs1800747

BRCA1

rs1800747 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA1. Location: chromosome 17, position 41,215,969. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BRCA1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:41215969
Cytoband
17q21.31
HGVS
NM_007294.4(BRCA1):c.5075-1G>A
Allele change
Silent

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Breast neoplasm|Hereditary cancer-predisposing syndrome|Familial cancer of breast

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.