chr17:56774151 A>T

Annotations

GeneRAD51C

TranscriptNM_058216.2

cDNAc.502A>T

Proteinp.R168X

Functionstop gain

Localizationexon

hg19chr17:56774151 A>T

NM_002876.3c.*1597A>T

NR_103872.1n.475+1601A>T

NR_103873.1n.*1410A>T

MAX–0.000008952

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0

NFE–0.000008952

SAS–0

RCV000648252.1Fanconi anemia, complementation group OPathogenic

RCV000212939.1not providedPathogenic

RCV000129454.4Hereditary cancer-predisposing syndromePathogenic

CM160584Breast cancerDM