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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
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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