chr17:41222939 A>G

Основные

ГенBRCA1

ТранскриптNM_007294.3

кДНКc.4986+6T>C

Белок

Функцияsplicing

Локализацияintron

hg19chr17:41222939 A>G

NM_007297.3c.4845+6T>C

NM_007298.3c.1674+6T>C

NM_007299.3c.1674+6T>C

NM_007300.3c.5049+6T>C

NR_027676.1n.5122+6T>C

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000048724.11Hereditary breast and ovarian cancer syndromePathogenic

RCV000131837.2Hereditary cancer-predisposing syndromePathogenic

RCV000159997.5not providedPathogenic/Likely pathogenic

RCV000031201.10Breast-ovarian cancer, familial 1Pathogenic/Likely pathogenic

CS991329Breast cancerDM