chr17:33430317 G>A

Основные

ГенRAD51D

ТранскриптNM_002878.3

кДНКc.694C>T

Белокp.R232X

Функцияstop gain

Локализацияexon

hg19chr17:33430317 G>A

NM_133629.2c.358C>Tp.R120X

NM_001142571.1c.754C>Tp.R252X

NR_037711.1n.831C>T

NR_037712.1n.696C>T

MAX0.000066640.00003666

AFR00

AMR00

ASJ00

EAS00

FIN00

NFE0.000066640.00003666

SAS–0

RCV000115819.8Hereditary cancer-predisposing syndromePathogenic

RCV000586822.1Hereditary breast and ovarian cancer syndromePathogenic

RCV000410860.3Breast-ovarian cancer, familial 4Pathogenic

RCV000212965.3not providedPathogenic

CM128411Ovarian cancerDM