chr7:6045600 C>G

Annotations

GenePMS2

TranscriptNM_000535.6

cDNAc.86G>C

Proteinp.G29A

Functionmissense

Localizationexon

hg19chr7:6045600 C>G

NR_136154.1n.173G>C

NM_001322006.1c.86G>Cp.G29A

NM_001322014.1c.86G>Cp.G29A

NM_001322003.1c.-320G>C

NM_001322004.1c.-242-1911G>C

NM_001322005.1c.-320G>C

NM_001322007.1c.-130G>C

NM_001322008.1c.-52-1911G>C

NM_001322009.1c.-320G>C

NM_001322010.1c.-242-1911G>C

NM_001322011.1c.-799G>C

NM_001322012.1c.-799G>C

NM_001322013.1c.-320G>C

NM_001322015.1c.-399G>C

MAX0.00070.0005

AFR00.00007067

AMR00.00008963

ASJ0.00330.0063

EAS00

FIN0.00110.0004

NFE0.00070.0005

SAS–0.0003

RCV000524481.2Hereditary nonpolyposis colon cancerBenign

RCV000123093.8Lynch syndromeVUS

RCV000121855.3not specifiedLikely benign

RCV000115707.7Hereditary cancer-predisposing syndromeLikely benign

RCV000034637.1not providedVUS

CM1710805Colorectal cancer, susceptibility toDM?