chr17:7578190 T>C

Основные

ГенTP53

ТранскриптNM_000546.5

кДНКc.659A>G

Белокp.Y220C

Функцияmissense

Локализацияexon

hg19chr17:7578190 T>C

dbSNPrs121912666

Синонимы

NM_001126115.1c.263A>Gp.Y88C

NM_001126116.1c.263A>Gp.Y88C

NM_001126117.1c.263A>Gp.Y88C

NM_001276697.1c.182A>Gp.Y61C

NM_001276698.1c.182A>Gp.Y61C

NM_001276699.1c.182A>Gp.Y61C

NM_001126118.1c.542A>Gp.Y181C

NM_001126112.2c.659A>Gp.Y220C

NM_001126113.2c.659A>Gp.Y220C

NM_001126114.2c.659A>Gp.Y220C

NM_001276695.1c.542A>Gp.Y181C

NM_001276696.1c.542A>Gp.Y181C

NM_001276760.1c.542A>Gp.Y181C

NM_001276761.1c.542A>Gp.Y181C

ENST00000359597.8c.659A>Gp.Tyr220Cys

ENST00000413465.6c.659A>Gp.Tyr220Cys

Частота в gnomAD

MAX–0.00001791

AFR–0

AMR–0

ASJ–0

EAS–0

FIN–0

NFE–0.00001791

SAS–0

ClinVar

RCV000428097.1Transitional cell carcinoma of the bladderLikely pathogenic

RCV000425869.1Malignant melanoma of skinLikely pathogenic

RCV000440244.1Pancreatic adenocarcinomaLikely pathogenic

RCV000425193.1Squamous cell lung carcinomaLikely pathogenic

RCV000442230.1Lung adenocarcinomaLikely pathogenic

RCV000439645.1Acute myeloid leukemiaLikely pathogenic

RCV000436553.1Uterine CarcinosarcomaLikely pathogenic

RCV000434614.1Adenocarcinoma of prostateLikely pathogenic

RCV000428791.1Papillary renal cell carcinoma, sporaLikely pathogenic

RCV000434300.1Likely pathogenic

RCV000423624.1Likely pathogenic

RCV000439456.1Likely pathogenic

RCV000433936.1Likely pathogenic

RCV000213055.2Pathogenic

RCV000115731.7Pathogenic

RCV000417417.1

RCV000435063.1

HGMD

CM951227Li-Fraumeni syndromeDM