LRG_321:g.18310C>T NG_017013.2:g.18310C>T NC_000017.11:g.7674241G>A NC_000017.10:g.7577559G>A
LRG_321p1:p.Ser241Phe NP_001119587.1:p.Ser109Phe NP_001119588.1:p.Ser109Phe NP_001119589.1:p.Ser109Phe NP_000537.3:p.Ser241Phe NP_001119584.1:p.Ser241Phe NP_001119585.1:p.Ser241Phe NP_001119586.1:p.Ser241Phe NM_000546.4:c.722C>T p.S241F NP_001119590.1:p.Ser202Phe NM_000546.5:c.722C>T P04637:p.Ser241Phe LRG_321t1:c.722C>T NP_001263625.1:p.Ser202Phe NP_001263689.1:p.Ser202Phe NP_001263690.1:p.Ser202Phe NP_001263626.1:p.Ser82Phe NP_001263627.1:p.Ser82Phe NP_001263628.1:p.Ser82Phe NM_001276697.3:c.245C>T NP_001263624.1:p.Ser202Phe NM_001276699.3:c.245C>T NM_001276760.3:c.605C>T NM_001276761.3:c.605C>T NM_000546.6:c.722C>T NM_001276698.3:c.245C>T NM_001126115.2:c.326C>T NM_001126116.2:c.326C>T NM_001126117.2:c.326C>T NM_001126118.2:c.605C>T NM_001276695.3:c.605C>T NM_001276696.3:c.605C>T NM_001126112.3:c.722C>T NM_001126113.3:c.722C>T NM_001126114.3:c.722C>T NP_000537.3:p.Ser241Phe More...
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06/18/2022 |
missense|missense variant |
pathogenic|likely pathogenic |
adult|all ages|childhood |
1-5 / 10 000|1-9 / 1 000 000|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. |
Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Basal cell carcinoma, susceptibility to, 7; Bone marrow failure syndrome 5; Bone osteosarcoma; Brain neoplasm; Brain Neoplasms; Brain tumour; Breast cancer, familial; Breast Neoplasms; Breast tumor; Cancer predisposition; Carcinoma of gallbladder; Carcinoma of pancreas; Carcinoma, squamous cell of head and neck; Choroid plexus papilloma; Colorectal cancer; Colorectal cancer, somatic; Colorectal neoplasm; Colorectal Neoplasms; Cutaneous melanoma; Esophageal carcinoma; Exocrine pancreatic carcinoma; Familial cancer of breast; Giant cell glioblastoma (histologic variant); Glioblastoma, somatic; Glioma susceptibility 1; Gliosarcoma (histologic variant); Head and neck squamous cell carcinoma; Hepatocellular cancer; Hepatocellular carcinoma; Hepatoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Li-Fraumeni syndrome 1; LIVER CELL CARCINOMA; LYMPHOMA, NON-HODGKIN, SOMATIC; Malignant Colorectal Neoplasm; Malignant lymphoma, non-Hodgkin; Malignant melanoma, somatic; Nasopharyngeal carcinoma; Nasopharyngeal carcinoma, somatic; Neoplasm of breast; Neoplasm of the breast; Neoplastic Syndromes, Hereditary; none provided; Oesophageal carcinoma; Osteosarcoma, somatic; OVARIAN CANCER, SOMATIC; Ovarian neoplasm; Ovarian Neoplasms; Ovarian tumor; PANCREATIC ACINAR CARCINOMA; Pancreatic cancer, somatic; PANCREATIC CARCINOMA; Pancreatic carcinoma, somatic; Papilloma of choroid plexus; 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, head and neck, somatic; Tumor predisposition |