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Variant : CV179419 (NM_005343.4(HRAS):c.38G>T (p.Gly13Val)) Homo sapiens

Symbol: CV179419
Name: NM_005343.4(HRAS):c.38G>T (p.Gly13Val)
Condition: Acute myeloid leukemia [RCV000427265]|Adenocarcinoma of lung [RCV000419846]|Adenocarcinoma of stomach [RCV000428389]|Chronic lymphocytic leukemia [RCV000418565]|Colorectal Neoplasms [RCV000424767]|Costello syndrome [RCV000590121]|Hepatocellular carcinoma [RCV000418712]|Lung adenocarcinoma [RCV000419846]|Malignant melanoma of skin [RCV000432148]|Malignant neoplasm of body of uterus [RCV000437080]|Multiple myeloma [RCV000426169]|Neoplasm of breast [RCV000444507]|Neoplasm of the breast [RCV000444507]|Neoplasm of the large intestine [RCV000424767]|Pancreatic adenocarcinoma [RCV000421468]|Rasopathy [RCV000157914]|Squamous cell carcinoma of lung [RCV000429433]|Squamous cell carcinoma of the head and neck [RCV000436822]|Squamous cell carcinoma of the skin [RCV000434580]|Squamous cell lung carcinoma [RCV000429433]|Thymoma [RCV000442670]|Transitional cell carcinoma of the bladder [RCV000439230]|Uterine cervical neoplasms [RCV000444587]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 03/27/2017
Review Status: classified by single submitter|criteria provided, 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 variant
Evidence: clinical testing|literature only
HGVS Name(s): NG_007666.1:g.6266G>T
NC_000011.10:g.534285C>A
NC_000011.9:g.534285C>A
NP_005334.1:p.Gly13Val
NM_001318054.2:c.-282G>T
NM_001130442.2:c.38G>T
NP_789765.1:p.Gly13Val
NM_005343.4:c.38G>T
NM_176795.4:c.38G>T
NM_005343.2:c.38G>T
NP_001123914.1:p.Gly13Val
Position
Human AssemblyChrPosition (strand)Source
GRCh3811534,285 - 534,285CLINVAR
GRCh3711534,285 - 534,285CLINVAR
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; 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; Neoplasm of breast; Plasmocytoma; Primary carcinoma of liver; 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
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: 9831513
Created: 2015-03-10
Species: Homo sapiens
Last Modified: 2020-01-21
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.