chr7:55181314:G>A Detail (hg38) (EGFR, EGFR-AS1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:55,249,007-55,249,007 View the variant detail on this assembly version. |
hg38 | chr7:55,181,314-55,181,314 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_005228.3:c.2305G>A | NP_005219.2:p.Val769Met |
NM_001346897.1:c.2170G>A | NP_001333826.1:p.Val724Met | |
Ensemble | ENST00000275493.7:c.2305G>A | ENST00000275493.7:p.Val769Met |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2013-06-27 | no assertion criteria provided | lung carcinoma |
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Detail |
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2024-01-09 | criteria provided, single submitter | EGFR-related lung cancer |
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Detail |
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2021-08-26 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.200 | Adenocarcinoma of lung (disorder) | Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rar... | BeFree | 17045698 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005228.5(EGFR):c.2305G>A (p.Val769Met) AND Lung carcinoma | ClinVar | Detail |
NM_005228.5(EGFR):c.2305G>A (p.Val769Met) AND EGFR-related lung cancer | ClinVar | Detail |
NM_005228.5(EGFR):c.2305G>A (p.Val769Met) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rare EGFR mutations S76... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs147149347 dbSNP
- Genome
- hg38
- Position
- chr7:55,181,314-55,181,314
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8626
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120770
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6560404073859402E-5
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