chr22:29120962 T>A

Основные

ГенCHEK2

ТранскриптNM_007194.3

кДНКc.592+3A>T

Белок

Функцияsplicing

Локализацияsplice site

hg19chr22:29120962 T>A

NM_001257387.1UTR5

NM_145862.2c.592+3A>T

NM_001005735.1c.721+3A>T

NM_001349956.1c.445-51A>T

MAX–0.00005374

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0

NFE–0.00005374

SAS–0.00003249

RCV000132447.7Hereditary cancer-predisposing syndromeVUS

RCV000656830.1not providedVUS

RCV000228472.4Familial cancer of breastConflicting interpretations of pathogenicity

RCV000212430.4not specifiedVUS

RCV000348008.1Neoplasm of the breastVUS

RCV000290615.1Colorectal cancerVUS

CS1610907Non-triple negative breast cancerDM