chr17:41245586 CT>C

Основные

ГенBRCA1

ТранскриптNM_007294.3

кДНКc.1961delA

Белокp.K654fs

Функцияframeshift del

Локализацияexon

hg19chr17:41245586 CT>C

NM_007297.3c.1820delAp.K607fs

NM_007300.3c.1961delAp.K654fs

NM_007298.3c.787+1174delA

NM_007299.3c.787+1174delA

NR_027676.1n.2097delA

MAX0.000066730

AFR00

AMR00

ASJ00

EAS00

FIN00

NFE0.000066730

SAS–0

RCV000414241.1Neoplasm of the breastPathogenic

RCV000130764.5Hereditary cancer-predisposing syndromePathogenic

RCV000031019.10Breast-ovarian cancer, familial 1Pathogenic

RCV000047660.9Hereditary breast and ovarian cancer syndromeConflicting interpretations of pathogenicity

RCV000677808.1Infiltrating duct carcinoma of breastPathogenic

RCV000236783.5not providedPathogenic

CD951610Breast cancerDM