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Variant : CV363278 (NM_005228.5(EGFR):c.1793G>C (p.Gly598Ala)) Homo sapiens

Symbol: CV363278
Name: NM_005228.5(EGFR):c.1793G>C (p.Gly598Ala)
Condition: Brainstem glioma [RCV000429899]|Glioblastoma [RCV000440786]|Neoplasm of brain [RCV000423114]
Clinical Significance: likely pathogenic
Last Evaluated: 05/31/2016
Review Status: no assertion criteria provided
Related Genes: EGFR  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_201284.2:c.1793G>C
NP_001333829.1:p.Gly545Ala
LRG_304:g.151319G>C
NG_007726.3:g.151319G>C
NC_000007.14:g.55165350G>C
NC_000007.13:g.55233043G>C
NP_005219.2:p.Gly598Ala
NM_001346900.2:c.1634G>C
NM_001346897.2:c.1658G>C
NM_001346899.1:c.1658G>C
NM_001346898.2:c.1793G>C
NM_201282.2:c.1793G>C
NM_001346941.2:c.992G>C
NP_001333870.1:p.Gly331Ala
NP_001333826.1:p.Gly553Ala
NM_005228.5:c.1793G>C
NP_001333828.1:p.Gly553Ala
NP_001333827.1:p.Gly598Ala
NP_958439.1:p.Gly598Ala
NP_958441.1:p.Gly598Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,165,350 - 55,165,350CLINVAR
GRCh37755,233,043 - 55,233,043CLINVAR
Cytogenetic Map77p11.2CLINVAR
Trait Synonyms: Brain neoplasm; Brain tumor; Brain tumour



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12836277
Created: 2017-04-11
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.