NM_001126115.2:c.130T>C NM_001126116.2:c.130T>C NM_001126117.2:c.130T>C NM_001126118.2:c.409T>C
NM_001276760.3:c.409T>C NP_000537.3:p.Cys176Arg LRG_321t1:c.526T>C LRG_321t8:c.409T>C NM_000546.5:c.526T>C NM_001276697.3:c.49T>C LRG_321:g.17465T>C NG_017013.2:g.17465T>C NC_000017.11:g.7675086A>G NC_000017.10:g.7578404A>G LRG_321p8:p.Cys137Arg LRG_321p1:p.Cys176Arg NP_001119585.1:p.Cys176Arg NP_001119590.1:p.Cys137Arg NP_000537.3:p.Cys176Arg NP_001119584.1:p.Cys176Arg NP_001119586.1:p.Cys176Arg NP_001119587.1:p.Cys44Arg NP_001119588.1:p.Cys44Arg NP_001119589.1:p.Cys44Arg NP_001263690.1:p.Cys137Arg NM_001276695.3:c.409T>C NM_001276696.3:c.409T>C NP_001263624.1:p.Cys137Arg NP_001263625.1:p.Cys137Arg NP_001263689.1:p.Cys137Arg NP_001263626.1:p.Cys17Arg NP_001263627.1:p.Cys17Arg NP_001263628.1:p.Cys17Arg NM_001126112.3:c.526T>C NM_001126114.3:c.526T>C NP_001119590.1:p.Cys137Arg NM_000546.4:c.526T>C NM_001276761.3:c.409T>C NM_001276698.3:c.49T>C NM_001276699.3:c.49T>C NM_000546.6:c.526T>C NM_001126113.3:c.526T>C NM_001126118.1:c.409T>C More...
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05/03/2020 |
missense variant |
pathogenic|likely pathogenic|uncertain significance |
all ages |
1-9 / 100 000|20-30% her2-positive cases for metastatic carcinomas, and only 11% of the screen-detected breast carcinomas displayed her2/neu gene amplification. |
Acute granulocytic leukemia; Acute myelogenous leukemia; Acute myeloid leukemia, adult; Acute non-lymphocytic leukemia; Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Adenocarcinoma of prostate; Adenocarcinoma of stomach; AML adult; Brain neoplasm; Brain Neoplasms; Brain tumour; Breast Neoplasms; Breast tumor; Cancer predisposition; Carcinoma, squamous cell of head and neck; Colorectal neoplasm; Colorectal Neoplasms; Esophageal carcinoma; Head and neck squamous cell carcinoma; Hepatocellular cancer; Hepatoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic; LIVER CELL CARCINOMA; Lung cancer, squamous cell, somatic; Neoplasm of breast; Neoplasm of the breast; Neoplastic Syndromes, Hereditary; Oesophageal carcinoma; OVARIAN CANCER, SOMATIC; Ovarian neoplasm; Ovarian Neoplasms; Ovarian tumor; Primary carcinoma of liver; Renal adenocarcinoma; Renal cell carcinoma 1; RENAL CELL CARCINOMA, PAPILLARY, 1, SOMATIC; Renal cell carcinoma, somatic; Sarcoma family syndrome of Li and Fraumeni; Squamous cell carcinoma of lung; Squamous cell carcinoma, head and neck, somatic; Tumor predisposition |