chr2:48025785 A>C

Annotations

GeneMSH6

TranscriptNM_000179.2

cDNAc.663A>C

Proteinp.E221D

Functionmissense

Localizationexon

hg19chr2:48025785 A>C

NM_001281492.1c.273A>Cp.E91D

NM_001281493.1c.-244A>C

NM_001281494.1c.-244A>C

MAX0.00090.0011

AFR0.00030.0002

AMR00.0004

ASJ00

EAS0.00060

FIN00.00004755

NFE0.00090.0011

SAS–0.0011

RCV000588752.1not providedBenign/Likely benign

RCV000075021.5Lynch syndromeVUS

RCV000115440.6Hereditary cancer-predisposing syndromeBenign

RCV000121575.11not specifiedLikely benign

RCV000659887.1Hereditary nonpolyposis colorectal cancer type 5VUS

RCV000524213.2Hereditary nonpolyposis colon cancerBenign

CM1714316Lynch syndromeDM?