chr3:37070330 GA>G
Основные
ГенMLH1
ТранскриптNM_000249.3
кДНКc.1466delA
Белокp.E489fs
Функцияframeshift del
Локализацияexon
hg19chr3:37070330 GA>G
dbSNP
Синонимы
ТранскрипткДНКБелок
NM_001167619.2c.745delp.Met249*
NM_001258273.1c.743delAp.E248fs
NM_001167617.2c.1174delp.Met392*
NM_001167618.2c.745delp.Met249*
NM_001258271.1c.1466delAp.E489fs
NM_001258274.2c.745delp.Met249*
NM_001354615.1c.745delp.Met249*
NM_001354616.1c.745delp.Met249*
NM_001354617.1c.745delp.Met249*
NM_001354618.1c.745delp.Met249*
NM_001354619.1c.745delp.Met249*
NM_001354620.1c.1174delp.Met392*
NM_001354621.1c.445delp.Met149*
NM_001354622.1c.445delp.Met149*
NM_001354623.1c.445delp.Met149*
NM_001354624.1c.394delp.Met132*
NM_001354625.1c.394delp.Met132*
NM_001354626.1c.394delp.Met132*
NM_001354627.1c.394delp.Met132*
NM_001354628.1c.1468delp.Met490*
NM_001354629.1c.1369delp.Met457*
NM_001354630.1c.1468delp.Met490*
Частота в gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––