chr19:39244466:T>C Detail (hg38) (IFNL3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:39,735,106-39,735,106 View the variant detail on this assembly version. |
| hg38 | chr19:39,244,466-39,244,466 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_172139.2:c.209A>G | NP_742151.2:p.Lys70Arg |
| Ensemble | ENST00000413851.3:c.209A>G | ENST00000413851.3:p.Lys70Arg |
| ENST00000613087.5:c.221A>G | ENST00000613087.5:p.Lys74Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.057 |
| ToMMo:0.103 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.058 |
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2018-03-09 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.220 | hepatitis C | This study demonstrated that Indonesian patients with chronic hepatitis C (mostl... | BeFree | 24696021 | Detail |
| 0.002 | Coinfection | We tested the association of spontaneous clearance and three single nucleotide p... | BeFree | 25803108 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_172139.4(IFNL3):c.209A>G (p.Lys70Arg) AND not specified | ClinVar | Detail |
| This study demonstrated that Indonesian patients with chronic hepatitis C (mostly ethnic Java people... | DisGeNET | Detail |
| We tested the association of spontaneous clearance and three single nucleotide polymorphisms (SNPs) ... | 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
- rs8103142 dbSNP
- Genome
- hg38
- Position
- chr19:39,244,466-39,244,466
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1107
- Mean of sample read depth (HGVD)
- 29.96
- Standard deviation of sample read depth (HGVD)
- 13.77
- Number of reference allele (HGVD)
- 2087
- Number of alternative allele (HGVD)
- 127
- Allele Frequency (HGVD)
- 0.057362240289069555
- Gene Symbol (HGVD)
- IL28B
- 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))
- rs8103142
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1034
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1732
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
- East Asian Chromosome Counts (ExAC)
- 8278
- East Asian Allele Counts (ExAC)
- 483
- East Asian Heterozygous Counts (ExAC)
- 471
- East Asian Homozygous Counts (ExAC)
- 6
- East Asian Allele Frequency (ExAC)
- 0.0583474269147137
- Chromosome Counts in All Race (ExAC)
- 103340
- Allele Counts in All Race (ExAC)
- 28797
- Heterozygous Counts in All Race (ExAC)
- 20747
- Homozygous Counts in All Race (ExAC)
- 4025
- Allele Frequency in All Race (ExAC)
- 0.27866266692471453
Genome browser