ClinVar
|
Risk
|
rs104894230(A;A) rs104894230(C;C) rs104894230(T;T) |
Alt
|
rs104894230(A;A) rs104894230(C;C) rs104894230(T;T) |
Reference
|
Rs104894230(G;G) |
Significance |
Pathogenic |
Disease |
Malignant tumor of urinary bladder Costello syndrome Myopathy Epidermal nevus not provided Malignant melanoma Neoplasm of the thyroid gland Malignant melanoma of skin Adenoid cystic carcinoma Colorectal Neoplasms Malignant neoplasm of body of uterus Ovarian Serous Cystadenocarcinoma Oesophageal carcinoma Uterine Carcinosarcoma Transitional cell carcinoma of the bladder Adenocarcinoma of stomach Nasopharyngeal Neoplasms Papillary renal cell carcinoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Adenocarcinoma of prostate Squamous cell carcinoma of the skin Neoplasm of breast Acute myeloid leukemia Glioblastoma Uterine cervical neoplasms Myelodysplastic syndrome Multiple myeloma Adenocarcinoma of lung Pancreatic adenocarcinoma Costello syndrome Nevus sebaceous Rasopathy |
Variation | info |
---|
Gene |
HRAS |
CLNDBN |
Malignant tumor of urinary bladder Costello syndrome Myopathy, congenital, with excess of muscle spindles Epidermal nevus not provided Malignant melanoma Neoplasm of the thyroid gland Malignant melanoma of skin Adenoid cystic carcinoma Colorectal Neoplasms Malignant neoplasm of body of uterus Ovarian Serous Cystadenocarcinoma Oesophageal carcinoma Uterine Carcinosarcoma Transitional cell carcinoma of the bladder Adenocarcinoma of stomach Nasopharyngeal Neoplasms Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Adenocarcinoma of prostate Squamous cell carcinoma of the skin Neoplasm of breast Acute myeloid leukemia Glioblastoma Uterine cervical neoplasms Myelodysplastic syndrome Multiple myeloma Adenocarcinoma of lung Pancreatic adenocarcinoma Costello syndrome, severe Nevus sebaceous Rasopathy |
Reversed |
1 |
HGVS |
NC_000011.9:g.534288C>A; NC_000011.9:g.534288C>G; NC_000011.9:g.534288C>T |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000013431.6, RCV000013432.27, RCV000013433.26, RCV000032850.6, RCV000157912.1, RCV000428111.1, RCV000438340.1, RCV000013437.24, RCV000207503.2, RCV000417508.1, RCV000418547.1, RCV000422263.1, RCV000423413.1, RCV000423622.1, RCV000423741.1, RCV000425511.1, RCV000425989.1, RCV000426130.1, RCV000428172.1, RCV000428375.1, RCV000430806.1, RCV000432956.1, RCV000433266.1, RCV000433587.1, RCV000435619.1, RCV000435805.1, RCV000436832.1, RCV000440663.1, RCV000441501.1, RCV000442448.1, RCV000444092.1, RCV000445090.1, RCV000445257.1, RCV000013446.26, RCV000029210.8, RCV000038460.2, RCV000149830.3, RCV000212496.2, RCV000429375.1, |