chr2:48030603 C>T

Основные

ГенMSH6

ТранскриптNM_000179.2

кДНКc.3217C>T

Белокp.P1073S

Функцияmissense

Локализацияexon

hg19chr2:48030603 C>T

NM_001281492.1c.2827C>Tp.P943S

NM_001281493.1c.2311C>Tp.P771S

NM_001281494.1c.2311C>Tp.P771S

MAX0.00010.0002

AFR00

AMR00.0000298

ASJ0.00330.0078

EAS00

FIN00.00004485

NFE0.00010.0002

SAS–0

RCV000524158.2Hereditary nonpolyposis colon cancerBenign

RCV000202106.4not specifiedConflicting interpretations of pathogenicity

RCV000659894.1Hereditary nonpolyposis colorectal cancer type 5VUS

RCV000034498.1not providedVUS

RCV000115406.9Hereditary cancer-predisposing syndromeLikely benign

RCV000074820.6Lynch syndromeVUS

CM1716180Pancreatic cancer, susceptibility toDM?