chr7:6017226 C>T

Annotations

GenePMS2

TranscriptNM_000535.6

cDNAc.2438G>A

Proteinp.R813Q

Functionmissense

Localizationexon

hg19chr7:6017226 C>T

NM_001322008.1c.2120G>Ap.R707Q

NM_001322010.1c.1877G>Ap.R626Q

NM_001322004.1c.2033G>Ap.R678Q

NM_001322006.1c.2282G>Ap.R761Q

NM_001322007.1c.2120G>Ap.R707Q

NM_001322013.1c.1865G>Ap.R622Q

NM_001322003.1c.2033G>Ap.R678Q

NM_001322005.1c.2033G>Ap.R678Q

NM_001322009.1c.2066G>Ap.R689Q

NM_001322011.1c.1505G>Ap.R502Q

NM_001322012.1c.1505G>Ap.R502Q

NM_001322014.1c.2471G>Ap.R824Q

NM_001322015.1c.2129G>Ap.R710Q

NR_136154.1n.2482G>A

MAX–0.0002

AFR–0

AMR–0

ASJ–0

EAS–0.0002

FIN–0

NFE–0.000012

SAS–0

RCV000564658.1Hereditary cancer-predisposing syndromeVUS

RCV000483291.1not specifiedVUS

RCV000537139.1Hereditary nonpolyposis colon cancerVUS

CM186253Breast cancer, high riskDM?