chr7:55229255:G>C Detail (hg19) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,229,255-55,229,255
hg38 chr7:55,161,562-55,161,562 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.1562G>C NP_005219.2:p.Arg521Thr
NM_201282.1:c.1562G>C NP_958439.1:p.Arg521Thr
NM_201284.1:c.1562G>C NP_958441.1:p.Arg521Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 131550 OMIM
HGNC 3236 HGNC
Ensembl ENSG00000146648 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Squamous cell carcinoma, metastatic Fifty-one patients enrolled in a single-arm phase II multicenter study for secon... BeFree 20028750 Detail
0.026 Tumor Progression The common EGFR-R521K genotype (G/G) was significantly associated with increased... BeFree 20028750 Detail
0.004 Squamous cell carcinoma of esophagus EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlati... BeFree 24945674 Detail
0.080 breast carcinoma Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, E... BeFree 19636371 Detail
0.001 Nodule These data suggest that the R521K might be a prognostic factor, because it corre... BeFree 19636371 Detail
0.108 colorectal cancer The EGFR R521K polymorphism influences the risk to develop colorectal cancer. BeFree 21896992 Detail
0.128 Squamous cell carcinoma of esophagus EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlati... BeFree 24945674 Detail
<0.001 bronchitis A novel association between bronchitis and a non-synonymous functional ERBB1 SNP... BeFree 23551418 Detail
0.240 Malignant neoplasm of breast Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, E... BeFree 19636371 Detail
0.104 Malignant neoplasm of breast Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, E... BeFree 19636371 Detail
<0.001 bronchitis A novel association between bronchitis and a non-synonymous functional ERBB1 SNP... BeFree 23551418 Detail
0.240 Malignant neoplasm of breast Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, E... BeFree 19636371 Detail
0.080 colorectal carcinoma The EGFR R521K polymorphism influences the risk to develop colorectal cancer. BeFree 21896992 Detail
0.080 breast carcinoma Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, E... BeFree 19636371 Detail
0.004 Skin toxicity Our study revealed an influence of the EGFR-R521K genotype on skin toxicity and ... BeFree 20028750 Detail
<0.001 bronchitis A novel association between bronchitis and a non-synonymous functional ERBB1 SNP... BeFree 23551418 Detail
0.080 breast carcinoma Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, E... BeFree 19636371 Detail
0.022 stomach carcinoma Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suita... BeFree 23844533 Detail
0.030 Malignant neoplasm of stomach Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suita... BeFree 23844533 Detail
Annotation

Annotations

DescrptionSourceLinks
Fifty-one patients enrolled in a single-arm phase II multicenter study for second-line treatment of ... DisGeNET Detail
The common EGFR-R521K genotype (G/G) was significantly associated with increased skin toxicity (P = ... DisGeNET Detail
EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanc... DisGeNET Detail
Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 prote... DisGeNET Detail
These data suggest that the R521K might be a prognostic factor, because it correlates with both tumo... DisGeNET Detail
The EGFR R521K polymorphism influences the risk to develop colorectal cancer. DisGeNET Detail
EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanc... DisGeNET Detail
A novel association between bronchitis and a non-synonymous functional ERBB1 SNP, rs2227983 (aka epi... DisGeNET Detail
Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 prote... DisGeNET Detail
Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 prote... DisGeNET Detail
A novel association between bronchitis and a non-synonymous functional ERBB1 SNP, rs2227983 (aka epi... DisGeNET Detail
Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 prote... DisGeNET Detail
The EGFR R521K polymorphism influences the risk to develop colorectal cancer. DisGeNET Detail
Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 prote... DisGeNET Detail
Our study revealed an influence of the EGFR-R521K genotype on skin toxicity and suggested its relati... DisGeNET Detail
A novel association between bronchitis and a non-synonymous functional ERBB1 SNP, rs2227983 (aka epi... DisGeNET Detail
Genetic polymorphisms in the EGFR (R521K) and estrogen receptor (T594T) genes, EGFR and ErbB-2 prote... DisGeNET Detail
Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suitable as markers for i... DisGeNET Detail
Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suitable as markers for i... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2227983 dbSNP
Genome
hg19
Position
chr7:55,229,255-55,229,255
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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