chr21:44297727:A>T Detail (hg38) (AIRE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:45,717,610-45,717,610 View the variant detail on this assembly version. |
| hg38 | chr21:44,297,727-44,297,727 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000383.3:c.1638A>T | NP_000374.1:p.Ter546Cysext*? |
| Ensemble | ENST00000291582.6:c.1638A>T | ENST00000291582.6:p.Ter546Cysext*? |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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
|
2023-09-04 | criteria provided, multiple submitters, no conflicts | Polyglandular autoimmune syndrome, type 1 |
germline
not provided
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.335 | Polyglandular Type I Autoimmune Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) AND Polyglandular autoimmune syndrome, type 1 | 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
- rs386833673 dbSNP
- Genome
- hg38
- Position
- chr21:44,297,727-44,297,727
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser