chr3:37081755 A>G
Основные
ГенMLH1
ТранскриптNM_000249.3
кДНКc.1637A>G
Белокp.K546R
Функцияmissense
Локализацияexon
hg19chr3:37081755 A>G
dbSNPrs587779954
Синонимы
ТранскрипткДНКБелок
NM_001167619.2c.914A>Gp.Lys305Arg
NM_001258273.1c.914A>Gp.K305R
NM_001167617.2c.1343A>Gp.Lys448Arg
NM_001167618.2c.914A>Gp.Lys305Arg
NM_001258271.1c.1637A>Gp.K546R
NM_001258274.2c.914A>Gp.Lys305Arg
NM_001354615.1c.914A>Gp.Lys305Arg
NM_001354616.1c.914A>Gp.Lys305Arg
NM_001354617.1c.914A>Gp.Lys305Arg
NM_001354618.1c.914A>Gp.Lys305Arg
NM_001354619.1c.914A>Gp.Lys305Arg
NM_001354620.1c.1343A>Gp.Lys448Arg
NM_001354621.1c.614A>Gp.Lys205Arg
NM_001354622.1c.614A>Gp.Lys205Arg
NM_001354623.1c.614A>Gp.Lys205Arg
NM_001354624.1c.563A>Gp.Lys188Arg
NM_001354625.1c.563A>Gp.Lys188Arg
NM_001354626.1c.563A>Gp.Lys188Arg
NM_001354627.1c.563A>Gp.Lys188Arg
NM_001354628.1c.1637A>Gp.Lys546Arg
NM_001354629.1c.1538A>Gp.Lys513Arg
NM_001354630.1c.1637A>Gp.Lys546Arg
Частота в gnomAD
GenomeExome
MAX–0.00001792
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00001792
SAS–0
ClinVar
IDФенотипЭффект