chr3:37061923 G>A

Основные

ГенMLH1

ТранскриптNM_000249.3

кДНКc.1007G>A

Белокp.G336D

Функцияmissense

Локализацияexon

hg19chr3:37061923 G>A

NM_001167619.2c.284G>Ap.Gly95Asp

NM_001258273.1c.284G>Ap.G95D

NM_001167617.2c.713G>Ap.Gly238Asp

NM_001167618.2c.284G>Ap.Gly95Asp

NM_001258271.1c.1007G>Ap.G336D

NM_001258274.2c.284G>Ap.Gly95Asp

NM_001354615.1c.284G>Ap.Gly95Asp

NM_001354616.1c.284G>Ap.Gly95Asp

NM_001354617.1c.284G>Ap.Gly95Asp

NM_001354618.1c.284G>Ap.Gly95Asp

NM_001354619.1c.284G>Ap.Gly95Asp

NM_001354620.1c.713G>Ap.Gly238Asp

NM_001354628.1c.1007G>Ap.Gly336Asp

NM_001354629.1c.908G>Ap.Gly303Asp

NM_001354630.1c.1007G>Ap.Gly336Asp

NM_001354621.1c.-17G>A

NM_001354622.1c.-17G>A

NM_001354623.1c.-17G>A

NM_001354624.1c.-36-5205G>A

NM_001354625.1c.-36-5205G>A

NM_001354626.1c.-36-5205G>A

NM_001354627.1c.-36-5205G>A

MAX–0.00002689

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0

NFE–0.00002689

SAS–0

RCV000411750.1Lynch syndrome IIVUS

RCV000129956.5Hereditary cancer-predisposing syndromeVUS

RCV000196459.5Hereditary nonpolyposis colon cancerVUS

CM184503Lynch syndromeDM?