chr16:88646131:G>A Detail (hg38) (CYBA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:88,712,539-88,712,539 View the variant detail on this assembly version. |
hg38 | chr16:88,646,131-88,646,131 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000101.3:c.354C>T | NP_000092.2:p.Ser118= |
Ensemble | ENST00000261623.8:c.354C>T | ENST00000261623.8:p.Ser118= |
ENST00000567174.5:c.354C>T | ENST00000567174.5:p.Ser118= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:<0.001 |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2024-01-31 | criteria provided, single submitter | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
![]() |
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 | |
0.360 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | Molecular analysis of 9 new families with chronic granulomatous disease caused b... | UNIPROT | 10910929 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000101.4(CYBA):c.354C>T (p.Ser118=) AND Granulomatous disease, chronic, autosomal recessive, cyto... | ClinVar | Detail |
NA | DisGeNET | Detail |
Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA,... | 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
- rs104894514 dbSNP
- Genome
- hg38
- Position
- chr16:88,646,131-88,646,131
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 878
- Mean of sample read depth (HGVD)
- 16.33
- Standard deviation of sample read depth (HGVD)
- 7.08
- Number of reference allele (HGVD)
- 1754
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 5.698005698005698E-4
- Gene Symbol (HGVD)
- CYBA
Genome browser