chr2:48030645 C>T

Основные

ГенMSH6

ТранскриптNM_000179.2

кДНКc.3259C>T

Белокp.P1087S

Функцияmissense

Локализацияexon

hg19chr2:48030645 C>T

NM_001281492.1c.2869C>Tp.P957S

NM_001281493.1c.2353C>Tp.P785S

NM_001281494.1c.2353C>Tp.P785S

MAX0.00030.0002

AFR00

AMR00

ASJ00

EAS00

FIN00

NFE0.00030.0002

SAS–0

RCV000074827.4Lynch syndromeVUS

RCV000131245.8Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity

RCV000148653.1Ovarian cancerVUS

RCV000524163.2Hereditary nonpolyposis colon cancerLikely benign

RCV000514075.1not providedVUS

RCV000212678.6not specifiedVUS

CM1210418Ovarian cancerDM