chr8:19962213:C>G Detail (hg38) (LPL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:19,819,724-19,819,724 View the variant detail on this assembly version. |
| hg38 | chr8:19,962,213-19,962,213 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.140 |
| ToMMo:0.130 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.114 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
1992-01-15 | no assertion criteria provided | LIPOPROTEIN LIPASE POLYMORPHISM |
germline
|
Detail |
|
Benign
|
2018-03-06 | criteria provided, single submitter | Hyperlipoproteinemia, type I |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Benign
|
2021-12-16 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Benign
|
2018-12-03 | criteria provided, single submitter |
germline
|
Detail | |
|
Benign
|
2022-05-02 | criteria provided, single submitter | Hyperlipidemia, familial combined, LPL related,Hyperlipoproteinemia, type I |
unknown
|
Detail |
|
Benign
|
2022-05-02 | criteria provided, single submitter | Hyperlipidemia, familial combined, LPL related,Hyperlipoproteinemia, type I |
unknown
|
Detail |
|
Benign
|
2023-06-19 | criteria provided, single submitter | LPL-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.011 | obesity | We compared the genotype distribution of five genetic Single Nucleotide Polymorp... | BeFree | 25612568 | Detail |
| <0.001 | Hashimoto Disease | We analyzed the associations of seven polymorphisms of genes involved in lipid m... | BeFree | 25587205 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND LIPOPROTEIN LIPASE POLYMORPHISM | ClinVar | Detail |
| NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND Hyperlipoproteinemia, type I | ClinVar | Detail |
| NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND not provided | ClinVar | Detail |
| NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND not specified | ClinVar | Detail |
| NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND multiple conditions | ClinVar | Detail |
| NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND multiple conditions | ClinVar | Detail |
| NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND LPL-related disorder | ClinVar | Detail |
| We compared the genotype distribution of five genetic Single Nucleotide Polymorphisms (SNPs) known t... | DisGeNET | Detail |
| We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3... | 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
- rs328 dbSNP
- Genome
- hg38
- Position
- chr8:19,962,213-19,962,213
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1201
- Mean of sample read depth (HGVD)
- 36.04
- Standard deviation of sample read depth (HGVD)
- 21.95
- Number of reference allele (HGVD)
- 2066
- Number of alternative allele (HGVD)
- 336
- Allele Frequency (HGVD)
- 0.1398834304746045
- Gene Symbol (HGVD)
- LPL
- 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))
- rs328
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1298
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2176
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8638
- East Asian Allele Counts (ExAC)
- 984
- East Asian Heterozygous Counts (ExAC)
- 852
- East Asian Homozygous Counts (ExAC)
- 66
- East Asian Allele Frequency (ExAC)
- 0.11391525816161148
- Chromosome Counts in All Race (ExAC)
- 121282
- Allele Counts in All Race (ExAC)
- 11340
- Heterozygous Counts in All Race (ExAC)
- 10142
- Homozygous Counts in All Race (ExAC)
- 599
- Allele Frequency in All Race (ExAC)
- 0.09350109661779984
Genome browser