chr17:41244865 GTTTC>G

Основные

ГенBRCA1

ТранскриптNM_007294.4

кДНКc.2679_2682del

Белокp.Lys893Asnfs*106

Функцияframeshift

Локализацияexon

hg19chr17:41244865 GTTTC>G

NM_007297.3c.2538_2541delp.K846fs

NM_007300.4c.2679_2682delp.Lys893Asnfs*106

NM_007298.3c.788-1820_788-1817delGAAA

NM_007299.3c.788-1820_788-1817delGAAA

NR_027676.1n.2815_2818delGAAA

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000131877.6Hereditary cancer-predisposing syndromePathogenic

RCV000255129.5not providedPathogenic

RCV000031062.10Breast-ovarian cancerPathogenic

RCV000047925.11Hereditary breast and ovarian cancer syndromePathogenic

RCV001001190.1not specifiedPathogenic

CD982490Breast cancerDM