chr17:7578555 C>CT
Основные
ГенTP53
ТранскриптNM_000546.5
кДНКc.376-1->A
Белок
Функцияsplicing
Локализацияsplice site
hg19chr17:7578555 C>CT
dbSNPrs751253294
Синонимы
ТранскрипткДНКБелок
NM_001276761.1c.259-1->A
NM_001276760.1c.259-1->A
NM_001276696.1c.259-1->A
NM_001276695.1c.259-1->A
NM_001126112.2c.376-1->A
NM_001126113.2c.376-1->A
NM_001126114.2c.376-1->A
NM_001126118.1c.259-1->A
ENST00000359597.8c.376-2dup
ENST00000413465.6c.376-2dup
NM_001126115.1c.-23dupA
NM_001126116.1c.-23dupA
NM_001126117.1c.-23dupA
NM_001276697.1c.-104dupA
NM_001276698.1c.-104dupA
NM_001276699.1c.-104dupA
Частота в gnomAD
GenomeExome
MAX–0.0000181
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.0000181
SAS–0
ClinVar
IDФенотипЭффект