chr17:7577548 C>T

Основные

ГенTP53

ТранскриптNM_000546.5

кДНКc.733G>A

Белокp.G245S

Функцияmissense

Локализацияexon

hg19chr17:7577548 C>T

dbSNPrs28934575

Синонимы

NM_001126115.1c.337G>Ap.G113S

NM_001126116.1c.337G>Ap.G113S

NM_001126117.1c.337G>Ap.G113S

NM_001276697.1c.256G>Ap.G86S

NM_001276698.1c.256G>Ap.G86S

NM_001276699.1c.256G>Ap.G86S

NM_001126118.1c.616G>Ap.G206S

NM_001126112.2c.733G>Ap.G245S

NM_001126113.2c.733G>Ap.G245S

NM_001126114.2c.733G>Ap.G245S

NM_001276695.1c.616G>Ap.G206S

NM_001276696.1c.616G>Ap.G206S

NM_001276760.1c.616G>Ap.G206S

NM_001276761.1c.616G>Ap.G206S

ENST00000359597.8c.733G>Ap.Gly245Ser

ENST00000413465.6c.733G>Ap.Gly245Ser

Частота в gnomAD

MAX0.00010

AFR0.00010

AMR00

ASJ00

EAS00

FIN00

NFE00

SAS–0

ClinVar

RCV000130147.7Hereditary cancer-predisposing syndromePathogenic

RCV000426307.1Uterine CarcinosarcomaLikely pathogenic

RCV000430925.1Neoplasm of brainLikely pathogenic

RCV000417419.1Adenocarcinoma of prostateLikely pathogenic

RCV000013162.20Li-Fraumeni-like syndromePathogenic

RCV000438801.1Hepatocellular carcinomaLikely pathogenic

RCV000154014.6not providedPathogenic

RCV000148909.1AdenocarcinomaLikely pathogenic

RCV000436979.1Neoplasm of the breastLikely pathogenic

RCV000426990.1Squamous cell lung carcinomaLikely pathogenic

RCV000442529.1Neoplasm of the Likely pathogenic

RCV000432898.1Likely pathogenic

RCV000588736.1Pathogenic

RCV000226657.5Pathogenic

RCV000587017.1Pathogenic

RCV000438107.1Likely pathogenic

RCV000442506.1Likely pa

HGMD

CM920674OsteosarcomaDM