chr22:29091856 AG>A

Основные

ГенCHEK2

ТранскриптNM_007194.3

кДНКc.1100delC

Белокp.T367fs

Функцияframeshift del

Локализацияexon

hg19chr22:29091856 AG>A

NM_001349956.1c.899delCp.T300fs

NM_145862.2c.1013delCp.T338fs

NM_001005735.1c.1229delCp.T410fs

NM_001257387.1c.437delCp.T146fs

MAX0.00250.0025

AFR0.00060.0003

AMR00.00005958

ASJ0.00660.0016

EAS00

FIN0.00830.0086

NFE0.00250.0025

SAS–0

RCV000509136.1Hereditary cancerNot provided

RCV000507407.1not specifiedPathogenic

RCV000587467.1Li-Fraumeni syndromePathogenic

RCV000615743.1CHEK2-Related Cancer SusceptibilityPathogenic

RCV000115980.9Hereditary cancer-predisposing syndromePathogenic

RCV000123265.9Familial cancer of breastPathogenic

RCV000210137.1Breast and colorectal cancer, susceptibility toPathogenic

RCV000212447.5not providedPathogenic

RCV000500025.1Breast cancer, susceptibilPathogenic

CD993415Li-Fraumeni syndromeDM