chr2:48033920 A>C

Annotations

GeneMSH6

TranscriptNM_000179.2

cDNAc.4004A>C

Proteinp.E1335A

Functionmissense

Localizationexon

hg19chr2:48033920 A>C

NM_001281492.1c.3614A>Cp.E1205A

NM_001281493.1c.3098A>Cp.E1033A

NM_001281494.1c.3098A>Cp.E1033A

MAX0.00120.0003

AFR00

AMR0.00120.0002

ASJ00

EAS00

FIN00

NFE00.00001838

SAS–0.0003

RCV000129804.5Hereditary cancer-predisposing syndromeVUS

RCV000656905.1not providedVUS

RCV000345573.3not specifiedVUS

RCV000409369.1Hereditary nonpolyposis colorectal cancer type 5VUS

RCV000204360.4Hereditary nonpolyposis colon cancerVUS

CM136611Colorectal cancer, non-polyposisDM