chr21:36397429:A>G Detail (hg38) (CHAF1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:37,769,727-37,769,727 View the variant detail on this assembly version. |
| hg38 | chr21:36,397,429-36,397,429 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005441.2:c.496A>G | NP_005432.1:p.Ile166Val |
| Ensemble | ENST00000314103.6:c.496A>G | ENST00000314103.6:p.Ile166Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2014-12-01 | no assertion criteria provided | Global developmental delay,intellectual disability,attention deficit hyperactivity disorder |
germline
|
Detail |
|
Likely pathogenic
|
2014-12-01 | no assertion criteria provided | Global developmental delay,intellectual disability,attention deficit hyperactivity disorder |
germline
|
Detail |
|
Likely pathogenic
|
2014-12-01 | no assertion criteria provided | Global developmental delay,intellectual disability,attention deficit hyperactivity disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Poor school performance | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005441.3(CHAF1B):c.496A>G (p.Ile166Val) AND multiple conditions | ClinVar | Detail |
| NM_005441.3(CHAF1B):c.496A>G (p.Ile166Val) AND multiple conditions | ClinVar | Detail |
| NM_005441.3(CHAF1B):c.496A>G (p.Ile166Val) AND multiple conditions | 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
- rs140630794 dbSNP
- Genome
- hg38
- Position
- chr21:36,397,429-36,397,429
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8570
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 119126
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.394473078924836E-6
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