chrX:154018741:A>G Detail (hg38) (IRAK1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:153,284,192-153,284,192 View the variant detail on this assembly version. |
hg38 | chrX:154,018,741-154,018,741 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001025243.1:c.587T>C | NP_001020414.1:p.Phe196Ser |
NM_001025242.1:c.587T>C | NP_001020413.1:p.Phe196Ser | |
NM_001569.3:c.587T>C | NP_001560.2:p.Phe196Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.219 |
ToMMo:0.241 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.253 |
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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2024-01-24 | criteria provided, single submitter | not specified |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Giant Cell Arteritis | Our data suggest that IRAK1 rs1059702 and MECP2 rs17435 genetic variants do not ... | BeFree | 24709033 | Detail |
0.001 | Septicemia | We previously described that a commonly occurring IRAK-1 variant haplotype, cont... | BeFree | 17785851 | Detail |
<0.001 | systemic scleroderma | On the other hand, IRAK1 rs1059702 was consistently associated with presence of ... | BeFree | 23444193 | Detail |
0.006 | Sepsis | We previously described that a commonly occurring IRAK-1 variant haplotype, cont... | BeFree | 17785851 | Detail |
0.011 | Lupus Erythematosus, Systemic | Association of interleukin-1 receptor-associated kinase (IRAK1) gene polymorphis... | BeFree | 23435933 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001569.4(IRAK1):c.587T>C (p.Phe196Ser) AND not specified | ClinVar | Detail |
Our data suggest that IRAK1 rs1059702 and MECP2 rs17435 genetic variants do not play a significant r... | DisGeNET | Detail |
We previously described that a commonly occurring IRAK-1 variant haplotype, containing amino acid ch... | DisGeNET | Detail |
On the other hand, IRAK1 rs1059702 was consistently associated with presence of pulmonary fibrosis (... | DisGeNET | Detail |
We previously described that a commonly occurring IRAK-1 variant haplotype, containing amino acid ch... | DisGeNET | Detail |
Association of interleukin-1 receptor-associated kinase (IRAK1) gene polymorphisms (rs3027898, rs105... | 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
- hg38
- Position
- chrX:154,018,741-154,018,741
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1194
- Mean of sample read depth (HGVD)
- 75.70
- Standard deviation of sample read depth (HGVD)
- 41.77
- Number of reference allele (HGVD)
- 1864
- Number of alternative allele (HGVD)
- 524
- Allele Frequency (HGVD)
- 0.21943048576214405
- Gene Symbol (HGVD)
- IRAK1
- 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))
- rs1059702
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2409
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3093
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12839
- East Asian Chromosome Counts (ExAC)
- 6059
- East Asian Allele Counts (ExAC)
- 1533
- East Asian Heterozygous Counts (ExAC)
- 832
- East Asian Homozygous Counts (ExAC)
- 132
- East Asian Allele Frequency (ExAC)
- 0.25301204819277107
- Chromosome Counts in All Race (ExAC)
- 84056
- Allele Counts in All Race (ExAC)
- 63078
- Heterozygous Counts in All Race (ExAC)
- 7709
- Homozygous Counts in All Race (ExAC)
- 15910
- Allele Frequency in All Race (ExAC)
- 0.750428285904635
- East Asian Hemizygous Counts (ExAC)
- 437
- Hemizygous Counts in All Race (ExAC)
- 23549
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