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chr22:29091856 AG>A

Основные

Ген CHEK2
Транскрипт NM_007194.3
кДНК c.1100delC
Белок p.T367fs
Функция frameshift del
Локализация exon
hg19 chr22:29091856 AG>A
dbSNP rs555607708

Синонимы

Транскрипт кДНК Белок
NM_001349956.1 c.899delC p.T300fs
NM_145862.2 c.1013delC p.T338fs
NM_001005735.1 c.1229delC p.T410fs
NM_001257387.1 c.437delC p.T146fs

Частота в gnomAD

Genome Exome
MAX 0.0025 0.0025
AFR 0.0006 0.0003
AMR 0 0.00005958
ASJ 0.0066 0.0016
EAS 0 0
FIN 0.0083 0.0086
NFE 0.0025 0.0025
SAS 0

ClinVar

ID Фенотип Эффект
RCV000509136.1 Hereditary cancer Not provided
RCV000507407.1 not specified Pathogenic
RCV000587467.1 Li-Fraumeni syndrome Pathogenic
RCV000615743.1 CHEK2-Related Cancer Susceptibility Pathogenic
RCV000115980.9 Hereditary cancer-predisposing syndrome Pathogenic
RCV000591014.1 Astrocytoma VUS
RCV000515188.1 Pathogenic
RCV000123265.9 Familial cancer of breast Pathogenic
RCV000210137.1 Breast and colorectal cancer, susceptibility to Pathogenic
RCV000212447.5 not provided Pathogenic
RCV000500025.1 Breast cancer, susceptibil Pathogenic
RCV000413386.1 Pathogenic
RCV000488416.1 Pathogenic

HGMD

ID Фенотип Эффект
CD993415 Li-Fraumeni syndrome DM