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Variant : CV363201 (NM_005343.4(HRAS):c.182A>C (p.Gln61Pro)) Homo sapiens

Symbol: CV363201
Name: NM_005343.4(HRAS):c.182A>C (p.Gln61Pro)
Condition: Acute myeloid leukemia [RCV000428741]|Adenocarcinoma of lung [RCV000441832]|Adenocarcinoma of stomach [RCV000435489]|Chronic lymphocytic leukemia [RCV000424105]|Colorectal Neoplasms [RCV000425877]|Hepatocellular carcinoma [RCV000440764]|Lung adenocarcinoma [RCV000441832]|Malignant melanoma of skin [RCV000430658]|Malignant neoplasm of body of uterus [RCV000430030]|Multiple myeloma [RCV000420448]|Neoplasm [RCV000428681]|Neoplasm of the large intestine [RCV000425877]|Neoplasm of the thyroid gland [RCV000435275]|Pancreatic adenocarcinoma [RCV000419094]|Squamous cell carcinoma of lung [RCV000435915]|Squamous cell lung carcinoma [RCV000435915]|Transitional cell carcinoma of the bladder [RCV000417619]
Clinical Significance: likely pathogenic
Last Evaluated: 05/31/2016
Review Status: no assertion criteria provided
Related Genes: HRAS   LRRC56  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: literature only
HGVS Name(s): NM_176795.4:c.182A>C
NP_001123914.1:p.Gln61Pro
NG_007666.1:g.6677A>C
NC_000011.10:g.533874T>G
NC_000011.9:g.533874T>G
NP_005334.1:p.Gln61Pro
NM_005343.4:c.182A>C
NM_001318054.2:c.-138A>C
NM_001130442.2:c.182A>C
NP_789765.1:p.Gln61Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh3811533,874 - 533,874CLINVAR
GRCh3711533,874 - 533,874CLINVAR
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; Cancer; 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; Neoplasia of the thyroid gland; Oncological abnormality; Oncology; Plasmocytoma; Primary carcinoma of liver; Squamous cell carcinoma of lung; Transitional cell bladder carcinoma; Tumor; Tumour
Age Of Onset: adult|all ages
Prevalence: 1-5 / 10 000|1-9 / 100 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834311
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.