chr2:47703697 G>A

Annotations

GeneMSH2

TranscriptNM_000251.2

cDNAc.2197G>A

Proteinp.A733T

Functionmissense

Localizationexon

hg19chr2:47703697 G>A

NM_001258281.1c.1999G>Ap.A667T

XR_001738747.1n.2269G>A

XR_939685.1n.2269G>A

MAX–0.0003

AFR–0

AMR–0

ASJ–0

EAS–0.0003

FIN–0

NFE–0

SAS–0.0002

RCV000491392.2Hereditary cancer-predisposing syndromeVUS

RCV000656998.1not providedVUS

RCV000236347.4not specifiedVUS

RCV000662875.1Lynch syndrome IVUS

RCV000524380.2Hereditary nonpolyposis colon cancerVUS

RCV000197588.3Lynch syndromeVUS

CM174245MedulloblastomaDM