chr17:7577120 C>T

Основные

ГенTP53

ТранскриптNM_000546.5

кДНКc.818G>A

Белокp.R273H

Функцияmissense

Локализацияexon

hg19chr17:7577120 C>T

dbSNPrs28934576

Синонимы

NM_001126115.1c.422G>Ap.R141H

NM_001126116.1c.422G>Ap.R141H

NM_001126117.1c.422G>Ap.R141H

NM_001276697.1c.341G>Ap.R114H

NM_001276698.1c.341G>Ap.R114H

NM_001276699.1c.341G>Ap.R114H

NM_001126118.1c.701G>Ap.R234H

NM_001126112.2c.818G>Ap.R273H

NM_001126113.2c.818G>Ap.R273H

NM_001126114.2c.818G>Ap.R273H

NM_001276695.1c.701G>Ap.R234H

NM_001276696.1c.701G>Ap.R234H

NM_001276760.1c.701G>Ap.R234H

NM_001276761.1c.701G>Ap.R234H

ENST00000359597.8c.818G>Ap.Arg273His

ENST00000413465.6c.782+379G>A

Частота в gnomAD

MAX–0.00002691

AFR–0

AMR–0

ASJ–0.0001

EAS–0

FIN–0

NFE–0.00002691

SAS–0

ClinVar

RCV000254693.4not providedPathogenic

RCV000515210.1Pathogenic

RCV000437210.1Small cell lung cancerLikely pathogenic

RCV000419960.1Adenocarcinoma of stomachLikely pathogenic

RCV000423826.1Uterine CarcinosarcomaLikely pathogenic

RCV000422733.1Adenocarcinoma of prostateLikely pathogenic

RCV000013164.5Anaplastic thyroid carcinomaPathogenic

RCV000443907.1Neoplasm of the breastLikely pathogenic

RCV000115738.7Hereditary cancer-predisposing syndromePathogenic

RCV000444900.1Neoplasm of the large intestineLikely pathogenic

RCV000441169.1NeoplasmLikely pathogenic

RCV000440474.1MedulloblLikely pathogenic

RCV000418930.1Likely pathogenic

RCV000440815.1Likely pathogenic

RCV000507221.1Pathogenic

RCV000434044.1Likely pathogenic

RCV000422097.1Li

HGMD

CM920677Li-Fraumeni syndromeDM