chr11:613208:T>C Detail (hg19) (IRF7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:613,208-613,208 |
| hg38 | chr11:613,208-613,208 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004031.2:c.1274A>G | NP_004022.2:p.Gln425Arg |
| Ensemble | ENST00000397570.5:c.1187A>G | ENST00000397570.5:p.Gln396Arg |
| ENST00000525445.6:c.1235A>G | ENST00000525445.6:p.Gln412Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.021 |
| ToMMo:0.021 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.028 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | immunodeficiency 39 |
germline
|
Detail |
not provided
|
no assertion provided | not provided |
unknown
|
Detail | |
|
Benign
|
2024-01-24 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.256 | Lupus Erythematosus, Systemic | We genotyped one KIAA1542 SNP (rs4963128) and one IRF7 SNP (rs1131665 [Q412R]) i... | BeFree | 21360504 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001572.5(IRF7):c.1235A>G (p.Gln412Arg) AND Immunodeficiency 39 | ClinVar | Detail |
| NM_001572.5(IRF7):c.1235A>G (p.Gln412Arg) AND not provided | ClinVar | Detail |
| NM_001572.5(IRF7):c.1235A>G (p.Gln412Arg) AND not specified | ClinVar | Detail |
| We genotyped one KIAA1542 SNP (rs4963128) and one IRF7 SNP (rs1131665 [Q412R]) in an Asian populatio... | 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
- rs1131665 dbSNP
- Genome
- hg19
- Position
- chr11:613,208-613,208
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 122.32
- Standard deviation of sample read depth (HGVD)
- 60.93
- Number of reference allele (HGVD)
- 2369
- Number of alternative allele (HGVD)
- 51
- Allele Frequency (HGVD)
- 0.021074380165289255
- Gene Symbol (HGVD)
- IRF7
- 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))
- rs1131665
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0213
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 357
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8306
- East Asian Allele Counts (ExAC)
- 236
- East Asian Heterozygous Counts (ExAC)
- 228
- East Asian Homozygous Counts (ExAC)
- 4
- East Asian Allele Frequency (ExAC)
- 0.028413195280520106
- Chromosome Counts in All Race (ExAC)
- 109168
- Allele Counts in All Race (ExAC)
- 27738
- Heterozygous Counts in All Race (ExAC)
- 19886
- Homozygous Counts in All Race (ExAC)
- 3926
- Allele Frequency in All Race (ExAC)
- 0.25408544628462554
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