chr7:55,208,288 C>G
Missense_Mutation

Data from | Mutation Assessor
Type | Missense_Mutation
RG variant | R>G
RG var.type | missense
AA variant | R680G
Gene | EGFR
MSA | MSA
Func. Impact | medium
FI score | 3.065
VC score | 3.93
VS score | 2.20
Location | 7p12
Uniprot | EGFR_HUMAN
Refseq | NP_005219
gaps in MSA | 0.71
MSA height | 165
Codon start position | chr7:55208288
Uniprot position | 680
Uniprot residue | R
Refseq position | 680
Refseq residue | R
OG | 1
N.Cosmic | 182
N.SNPs | 36
mutations in COSMIC@position | p.R680G
cancer types in COSMIC@position | astrocytoma_Grade_IV
gene's known role in cancer | Cancer Cell Map Pathway :: Alpha6Beta4 Integrin /// Cancer Cell Map Pathway :: EGFR1 /// Cancer Review :: Futreal et al 2004 /// Cancer Review :: Vogelstein and Kinzler 2004 /// Entrez Query :: Oncogene /// Entrez Query :: Stability /// Entrez Query :: Tyrosine Kinase
regions@position | TOPO_DOM // 669 // 1210 // Cytoplasmic (Potential).
domains | Furin-like cysteine rich region /// Receptor L domain /// Protein tyrosine kinase

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Type: Missense_Mutation
Hugo_Symbol: EGFR
Entrez_Gene_Id: 1956
Center: genome.wustl.edu
NCBI_Build: 36
Chromosome: 7
Start_position: 55208288
End_position: 55208288
Strand: +
Variant_Classification: Missense_Mutation
Variant_Type: SNP
Reference_Allele: C
Tumor_Seq_Allele1: C
Tumor_Seq_Allele2: G
dbSNP_RS: Unknown
dbSNP_Val_Status: Unknown
Tumor_Sample_Barcode: TCGA-02-0010-01A-01W
Matched_Norm_Sample_Barcode: TCGA-02-0010-10A-01W
Match_Norm_Seq_Allele1: C
Match_Norm_Seq_Allele2: C
Tumor_Validation_Allele1: C
Tumor_Validation_Alliele2: G
Match_Norm_Validation_Allele1: C
Match_Norm_Validation_Allele2: C
Verification_Status: Valid
Validation_Status: Valid
Mutation_Status: Somatic
Sequencing_Phase: Phase_I