chr17:41209068 C>T

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.5277+1G>A

Protein

Functionsplicing

Localizationsplice site

hg19chr17:41209068 C>T

NM_007300.3c.5340+1G>A

NM_007297.3c.5136+1G>A

NM_007299.3c.1965+1G>A

NM_007298.3c.1965+1G>A

NR_027676.1n.5413+1G>A

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000031235.8Breast-ovarian cancer, familial 1Pathogenic

RCV000074601.10Hereditary breast and ovarian cancer syndromePathogenic

RCV000131865.5Hereditary cancer-predisposing syndromePathogenic

RCV000507129.1not specifiedPathogenic

RCV000235135.3not providedPathogenic

CS013998Breast and/or ovarian cancerDM