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chr3:37092067 A>G

Основные

Ген MLH1
Транскрипт NM_000249.3
кДНК c.2194A>G
Белок p.K732E
Функция missense
Локализация exon
hg19 chr3:37092067 A>G
dbSNP

Синонимы

Транскрипт кДНК Белок
NM_001258271.1 c.1987A>G p.K663E
NM_001167619.2 c.1471A>G p.Lys491Glu
NM_001258273.1 c.1471A>G p.K491E
NM_001167617.2 c.1900A>G p.Lys634Glu
NM_001167618.2 c.1471A>G p.Lys491Glu
NM_001258274.2 c.1471A>G p.Lys491Glu
NM_001354615.1 c.1471A>G p.Lys491Glu
NM_001354616.1 c.1471A>G p.Lys491Glu
NM_001354617.1 c.1471A>G p.Lys491Glu
NM_001354618.1 c.1471A>G p.Lys491Glu
NM_001354619.1 c.1471A>G p.Lys491Glu
NM_001354620.1 c.1900A>G p.Lys634Glu
NM_001354621.1 c.1171A>G p.Lys391Glu
NM_001354622.1 c.1171A>G p.Lys391Glu
NM_001354623.1 c.1171A>G p.Lys391Glu
NM_001354624.1 c.1120A>G p.Lys374Glu
NM_001354625.1 c.1120A>G p.Lys374Glu
NM_001354626.1 c.1120A>G p.Lys374Glu
NM_001354627.1 c.1120A>G p.Lys374Glu
NM_001354628.1 c.2101A>G p.Lys701Glu
NM_001354629.1 c.2095A>G p.Lys699Glu
NM_001354630.1 c.2029A>G p.Lys677Glu

Частота в gnomAD

Genome Exome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

ID Фенотип Эффект
RCV000565947.1 Hereditary cancer-predisposing syndrome VUS