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