chr16:88651007:G>A Detail (hg38) (CYBA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:88,717,415-88,717,415 View the variant detail on this assembly version. |
| hg38 | chr16:88,651,007-88,651,007 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000101.3:c.7C>T | NP_000092.2:p.Gln3Ter |
| Ensemble | ENST00000261623.8:c.7C>T | ENST00000261623.8:p.Gln3Ter |
| ENST00000567174.5:c.7C>T | ENST00000567174.5:p.Gln3Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000179) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-09-21 | criteria provided, multiple submitters, no conflicts | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
germline
unknown
|
Detail |
|
Pathogenic
|
2020-04-10 | no assertion criteria provided | chronic granulomatous disease |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) AND Granulomatous disease, chronic, autosomal recessive, cytoch... | ClinVar | Detail |
| NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) AND Chronic granulomatous disease | ClinVar | Detail |
| NA | 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
- rs104894511 dbSNP
- Genome
- hg38
- Position
- chr16:88,651,007-88,651,007
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs104894511
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 4304
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 4.6468401486988845E-4
- Chromosome Counts in All Race (ExAC)
- 62458
- 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)
- 3.202151846040539E-5
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