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Variant : CV44227 (NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)) Homo sapiens

Symbol: CV44227
Name: NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
Condition: Acute myeloid leukemia [RCV000439826]|Adenocarcinoma of lung [RCV000439525]|Adenocarcinoma of stomach [RCV000424371]|Chronic lymphocytic leukemia [RCV000420422]|Colorectal Neoplasms [RCV000420481]|Epidermal nevus [RCV000032852]|Epidermal nevus syndrome [RCV000029213]|Hepatocellular carcinoma [RCV000430065]|Lung adenocarcinoma [RCV000439525]|Malignant melanoma of skin [RCV000430227]|Malignant neoplasm of body of uterus [RCV000422625]|Multiple myeloma [RCV000443949]|NEVUS SEBACEOUS, SOMATIC [RCV000029212]|NEVUS SPILUS, SOMATIC [RCV000173005]|Neoplasm of breast [RCV000432361]|Neoplasm of the breast [RCV000432361]|Neoplasm of the large intestine [RCV000420481]|Neoplasm of the thyroid gland [RCV000418725]|Nevus sebaceous [RCV000029212]|Nevus, epidermal, somatic [RCV000032852]|Pancreatic adenocarcinoma [RCV000427669]|SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC [RCV000029213]|SPITZ NEVUS, SOMATIC [RCV000173006]|Squamous cell carcinoma of lung [RCV000419344]|Squamous cell carcinoma of the head and neck [RCV000431824]|Squamous cell carcinoma of the skin [RCV000435072]|Squamous cell lung carcinoma [RCV000419344]|Transitional cell carcinoma of the bladder [RCV000437649]|Uterine cervical neoplasms [RCV000440902]
Clinical Significance: pathogenic|likely pathogenic|other
Last Evaluated: 04/27/2017
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: HRAS   LRRC56  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|missense|missense variant
Evidence: literature only
HGVS Name(s): NG_007666.1:g.6265G>C
NC_000011.10:g.534286C>G
NC_000011.9:g.534286C>G
NP_005334.1:p.Gly13Arg
NM_005343.2:c.37G>C
P01112:p.Gly13Arg
NM_001318054.2:c.-283G>C
NM_001130442.2:c.37G>C
NM_005343.4:c.37G>C
NM_176795.4:c.37G>C
NP_001123914.1:p.Gly13Arg
NP_789765.1:p.Gly13Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh3811534,286 - 534,286CLINVAR
GRCh3711534,286 - 534,286CLINVAR
Cytogenetic Map1111p15.5CLINVAR
Trait Synonyms: Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; B-cell chronic lymphocytic leukemia; Breast cancer; Breast tumor; Chronic lymphatic leukemia; Colorectal Neoplasms; Epidermal nevi; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Kahler's disease; Large intestine tumor; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic; Liver cancer; LIVER CELL CARCINOMA; Lung cancer, squamous cell, somatic; MELANOMA, MALIGNANT, SOMATIC; Multiple myeloma, somatic; Neoplasia of the breast; Neoplasia of the thyroid gland; Neoplasm of breast; NEVUS SEBACEOUS, SOMATIC; Nevus, epidermal, somatic; NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC; Nevus, Sebaceous of Jadassohn; Organoid nevus; Plasmocytoma; Primary carcinoma of liver; SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC; Sebaceous mole; Sebaceous naevus; Sebaceous nevus syndrome and hemimegalencephaly; Squamous cell carcinoma of lung; Squamous cell carcinoma, head and neck, somatic; Squamous skin carcinoma; Transitional cell bladder carcinoma; Tumours of the breast
Age Of Onset: adult|all ages|childhood|infancy|neonatal
Prevalence: 1-5 / 10 000|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.



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8569127
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.