chr2:47641430 C>T

Основные

ГенMSH2

ТранскриптNM_000251.2

кДНКc.815C>T

Белокp.A272V

Функцияmissense

Локализацияexon

hg19chr2:47641430 C>T

NM_001258281.1c.617C>Tp.A206V

XR_001738747.1n.887C>T

XR_939685.1n.887C>T

MAX0.00030.0004

AFR00.0001

AMR00.0004

ASJ00.0009

EAS00

FIN00

NFE0.00030.0004

SAS–0.00003278

RCV000115542.9Hereditary cancer-predisposing syndromeLikely benign

RCV000034559.1not providedVUS

RCV000663110.1Lynch syndrome IVUS

RCV000076728.6Lynch syndromeVUS

RCV000148632.1Colorectal cancer, non-polyposisVUS

RCV000524422.2Hereditary nonpolyposis colon cancerBenign

RCV000212591.5not specifiedConflicting interpretations of pathogenicity

CM995172Colorectal cancer, non-polyposisDM