chr14:68352674 C>T
Основные
ГенRAD51B
ТранскриптNM_001321814.1
кДНКc.541C>T
Белокp.R181W
Функцияmissense
Локализацияexon
hg19chr14:68352674 C>T
dbSNPrs199981178
Синонимы
ТранскрипткДНКБелок
NM_001321812.1c.541C>Tp.R181W
NM_001321815.1c.427C>Tp.R143W
NM_001321809.1c.541C>Tp.R181W
NM_001321810.1c.541C>Tp.R181W
NM_001321818.1c.541C>Tp.R181W
NM_001321819.1c.541C>Tp.R181W
NM_001321821.1c.541C>Tp.R181W
NM_002877.5c.541C>Tp.R181W
NM_133509.3c.541C>Tp.R181W
NM_133510.3c.541C>Tp.R181W
NM_001321817.1c.184C>Tp.R62W
Частота в gnomAD
GenomeExome
MAX0.00050.0002
AFR0.00010
AMR00
ASJ00
EAS00
FIN0.00920.012
NFE0.00050.0002
SAS–0.00003261
HGMD
IDФенотипЭффект
CM165870Breast cancerDM