chr17:41226348 C>T

Annotations

GeneBRCA1

TranscriptNM_007294.3

cDNAc.4675G>A

Proteinp.E1559K

Functionmissense

Localizationexon

hg19chr17:41226348 C>T

NM_007297.3c.4534G>Ap.E1512K

NM_007298.3c.1363G>Ap.E455K

NM_007299.3c.1363G>Ap.E455K

NM_007300.3c.4738G>Ap.E1580K

NR_027676.1n.4811G>A

MAX0.00006665–

AFR0–

AMR0–

ASJ0–

EAS0–

FIN0–

NFE0.00006665–

SAS––

RCV000482921.1not providedLikely pathogenic

RCV000031185.5Breast-ovarian cancer, familial 1Pathogenic

RCV000496604.1Hereditary breast and ovarian cancer syndromePathogenic

RCV000131823.3Hereditary cancer-predisposing syndromePathogenic

CM147247Breast and/or ovarian cancerDM