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chr17:7578407 G>A

Основные

Ген TP53
Транскрипт NM_000546.5
кДНК c.523C>T
Белок p.R175C
Функция missense
Локализация exon
hg19 chr17:7578407 G>A
dbSNP rs138729528

Синонимы

Транскрипт кДНК Белок
NM_001126115.1 c.127C>T p.R43C
NM_001126116.1 c.127C>T p.R43C
NM_001126117.1 c.127C>T p.R43C
NM_001276697.1 c.46C>T p.R16C
NM_001276698.1 c.46C>T p.R16C
NM_001276699.1 c.46C>T p.R16C
NM_001126118.1 c.406C>T p.R136C
NM_001126112.2 c.523C>T p.R175C
NM_001126113.2 c.523C>T p.R175C
NM_001126114.2 c.523C>T p.R175C
NM_001276695.1 c.406C>T p.R136C
NM_001276696.1 c.406C>T p.R136C
NM_001276760.1 c.406C>T p.R136C
NM_001276761.1 c.406C>T p.R136C
ENST00000359597.8 c.523C>T p.Arg175Cys
ENST00000413465.6 c.523C>T p.Arg175Cys

Частота в gnomAD

Genome Exome
MAX 0 0.00006498
AFR 0 0
AMR 0 0
ASJ 0 0
EAS 0 0
FIN 0 0.00004484
NFE 0 0.00001793
SAS 0.00006498

ClinVar

ID Фенотип Эффект
RCV000439251.1 Malignant neoplasm of body of uterus Likely pathogenic
RCV000438017.1 Transitional cell carcinoma of the bladder Likely pathogenic
RCV000433333.1 Neoplasm of the large intestine Likely pathogenic
RCV000434308.1 Squamous cell lung carcinoma Likely pathogenic
RCV000433090.1 Uterine Carcinosarcoma Likely pathogenic
RCV000422641.1 Medulloblastoma Likely pathogenic
RCV000439855.1 Ovarian Serous Cystadenocarcinoma Likely pathogenic
RCV000418929.1 Lung adenocarcinoma Likely pathogenic
RCV000442812.1 Carcinoma of esophagu Likely pathogenic
RCV000418017.1 Likely pathogenic
RCV000427794.1 Likely pathogenic
RCV000429222.1 Likely pathogenic
RCV000435664.1 Likely pathogenic
RCV000421969.1 Likely pathogenic

HGMD

ID Фенотип Эффект
CM118880 Ovarian carcinoma DM