chr7:116782027:G>A Detail (hg38) (MET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:116,422,081-116,422,081 View the variant detail on this assembly version. |
hg38 | chr7:116,782,027-116,782,027 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001127500.2:c.3616G>A | NP_001120972.1:p.Val1206Ile |
NM_000245.3:c.3562G>A | NP_000236.2:p.Val1188Ile | |
NM_001324402.1:c.3562G>A | NP_001311331.1:p.Val1188Ile |
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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2017-11-08 | criteria provided, single submitter | renal cell carcinoma |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.253 | renal cell carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000245.4(MET):c.3562G>A (p.Val1188Ile) AND Renal cell carcinoma | ClinVar | Detail |
NA | 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
- rs121913669 dbSNP
- Genome
- hg38
- Position
- chr7:116,782,027-116,782,027
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8482
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.178967224711153E-4
- Chromosome Counts in All Race (ExAC)
- 116298
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.598600147895923E-6
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