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chr22:29121087 A>G

Основные

Ген CHEK2
Транскрипт NM_007194.3
кДНК c.470T>C
Белок p.I157T
Функция missense
Локализация exon
hg19 chr22:29121087 A>G
dbSNP rs17879961

Синонимы

Транскрипт кДНК Белок
NM_145862.2 c.470T>C p.I157T
NM_001005735.1 c.599T>C p.I200T
NM_001349956.1 c.444+144T>C
NM_001257387.1 c.-308T>C

Частота в gnomAD

Genome Exome
MAX 0.0161 0.004
AFR 0 0.0001
AMR 0 0.00005956
ASJ 0 0.0012
EAS 0 0
FIN 0.0264 0.025
NFE 0.0161 0.004
SAS 0.00003249

ClinVar

ID Фенотип Эффект
RCV000210131.1 Breast and colorectal cancer, susceptibility to Likely pathogenic
RCV000144596.6 Familial cancer of breast Pathogenic/Likely pathogenic
RCV000212410.6 not provided Conflicting interpretations of pathogenicity
RCV000499814.1 Breast cancer, susceptibility to Pathogenic
RCV000116018.10 Hereditary cancer-predisposing syndrome Pathogenic
RCV000005936.2 Li-Fraumeni syndrome 2 Pathogenic
RCV000005937.2 Colorectal cancer, susceptibility to Risk factor
RCV000120555.1 not specified VUS
RCV000005938.2 Cancer of multiple t Risk factor
RCV000005939.2 Risk factor

HGMD

ID Фенотип Эффект
CM993368 Li-Fraumeni syndrome, increased risk DFP