Variant (rsID / SNP)

rs1057521184

rs1057521184 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,937,509. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

BRCA2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:32937509
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.8170G>T (p.Gly2724Trp)
Allele change: Missense_G2724W

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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