chr17:41276061 A>G

Основные

ГенBRCA1

ТранскриптNM_007294.3

кДНКc.53T>C

Белокp.M18T

Функцияmissense

Локализацияexon

hg19chr17:41276061 A>G

NM_007298.3c.53T>Cp.M18T

NM_007299.3c.53T>Cp.M18T

NM_007300.3c.53T>Cp.M18T

NM_007297.3c.-35T>C

NR_027676.1n.214T>C

MAX––

AFR––

AMR––

ASJ––

EAS––

FIN––

NFE––

SAS––

RCV000131693.3Hereditary cancer-predisposing syndromeLikely pathogenic

RCV000031245.5Breast-ovarian cancer, familial 1Conflicting interpretations of pathogenicity

RCV000212154.1not providedLikely pathogenic

CM004187Breast cancerDM