chr7:55147325:A>C Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,215,018-55,215,018 View the variant detail on this assembly version.
hg38 chr7:55,147,325-55,147,325

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.559+585A>C
NM_201282.1:c.559+585A>C
NM_201284.1:c.559+585A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.297
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 tgv29353253 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
0.010 Glioma Our comprehensive analysis of nine SNPs in eight genes suggests that the rs73043... BeFree 23244079 Detail
0.021 Glioma Our comprehensive analysis of nine SNPs in eight genes suggests that the rs73043... BeFree 23244079 Detail
Annotation

Annotations

DescrptionSourceLinks
Our comprehensive analysis of nine SNPs in eight genes suggests that the rs730437 and rs1468727 in E... DisGeNET Detail
Our comprehensive analysis of nine SNPs in eight genes suggests that the rs730437 and rs1468727 in E... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs730437 dbSNP
Genome
hg38
Position
chr7:55,147,325-55,147,325
Variant Type
snv
Reference Allele
A
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs730437
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2973
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4982
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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