chr17:7578407 G>A

Основные

ГенTP53

ТранскриптNM_000546.5

кДНКc.523C>T

Белокp.R175C

Функцияmissense

Локализацияexon

hg19chr17:7578407 G>A

dbSNPrs138729528

Синонимы

NM_001126115.1c.127C>Tp.R43C

NM_001126116.1c.127C>Tp.R43C

NM_001126117.1c.127C>Tp.R43C

NM_001276697.1c.46C>Tp.R16C

NM_001276698.1c.46C>Tp.R16C

NM_001276699.1c.46C>Tp.R16C

NM_001126118.1c.406C>Tp.R136C

NM_001126112.2c.523C>Tp.R175C

NM_001126113.2c.523C>Tp.R175C

NM_001126114.2c.523C>Tp.R175C

NM_001276695.1c.406C>Tp.R136C

NM_001276696.1c.406C>Tp.R136C

NM_001276760.1c.406C>Tp.R136C

NM_001276761.1c.406C>Tp.R136C

ENST00000359597.8c.523C>Tp.Arg175Cys

ENST00000413465.6c.523C>Tp.Arg175Cys

Частота в gnomAD

MAX00.00006498

AFR00

AMR00

ASJ00

EAS00

FIN00.00004484

NFE00.00001793

SAS–0.00006498

ClinVar

RCV000439251.1Malignant neoplasm of body of uterusLikely pathogenic

RCV000438017.1Transitional cell carcinoma of the bladderLikely pathogenic

RCV000433333.1Neoplasm of the large intestineLikely pathogenic

RCV000434308.1Squamous cell lung carcinomaLikely pathogenic

RCV000433090.1Uterine CarcinosarcomaLikely pathogenic

RCV000422641.1MedulloblastomaLikely pathogenic

RCV000439855.1Ovarian Serous CystadenocarcinomaLikely pathogenic

RCV000418929.1Lung adenocarcinomaLikely pathogenic

RCV000442812.1Carcinoma of esophaguLikely pathogenic

RCV000418017.1Likely pathogenic

RCV000427794.1Likely pathogenic

RCV000429222.1Likely pathogenic

RCV000574439.1VUS

RCV000435664.1Likely pathogenic

RCV000421969.1Likely pathogenic

RCV000424499.1

RCV000440307.1

HGMD

CM118880Ovarian carcinomaDM