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chr17:41209079 T>TG

Основные

Ген BRCA1
Транскрипт NM_007294.3
кДНК c.5266dupC
Белок p.Q1756fs
Функция frameshift ins
Локализация exon
hg19 chr17:41209079 T>TG
dbSNP rs80357906

Синонимы

Транскрипт кДНК Белок
NR_027676.1 n.5402dupC
NM_007297.3 c.5125dupC p.Q1709fs
NM_007298.3 c.1954dupC p.Q652fs
NM_007299.3 c.1954dupC p.Q652fs
NM_007300.3 c.5329dupC p.Q1777fs

Частота в gnomAD

Genome Exome
MAX 0.0004 0.0001
AFR 0 0
AMR 0 0.00002978
ASJ 0 0.0023
EAS 0 0
FIN 0 0
NFE 0.0004 0.0001
SAS 0

ClinVar

ID Фенотип Эффект
RCV000495973.1 Porokeratosis punctata palmaris et plantaris Pathogenic
RCV000019246.20 Breast-ovarian cancer, familial 1 Pathogenic
RCV000019247.4 Pancreatic cancer, susceptibility to Risk factor
RCV000119097.14 Hereditary breast and ovarian cancer syndrome Pathogenic
RCV000412924.1 Neoplasm of the breast Pathogenic
RCV000056287.8 Familial cancer of breast Pathogenic
RCV000131328.5 Hereditary cancer-predisposing syndrome Pathogenic
RCV000258962.4 not Pathogenic
RCV000415060.1 Pathogenic

HGMD

ID Фенотип Эффект
CI941841 Breast cancer DM