chr7:127894621:C>A Detail (hg19) (LEP)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:127,894,621-127,894,621 |
| hg38 | chr7:128,254,568-128,254,568 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000230.2:c.309C>A | NP_000221.1:p.Asn103Lys |
| Ensemble | ENST00000308868.5:c.309C>A | ENST00000308868.5:p.Asn103Lys |
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 |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2023-08-19 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | obesity | Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutatio... | BeFree | 26186301 | Detail |
| 0.440 | obesity | A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyp... | BeFree | 19427251 | Detail |
| 0.122 | Hyperphagia | We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe... | BeFree | 26186301 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000230.3(LEP):c.309C>A (p.Asn103Lys) AND not provided | ClinVar | Detail |
| Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene... | DisGeNET | Detail |
| A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient. | DisGeNET | Detail |
| We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe early-onset obesity... | 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
- -
- Genome
- hg19
- Position
- chr7:127,894,621-127,894,621
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8648
- 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)
- 121400
- 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)
- 1.6474464579901152E-5
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