chr21:45707018:T>C Detail (hg19) (AIRE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:45,707,018-45,707,018 |
| hg38 | chr21:44,287,135-44,287,135 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000383.3:c.463+2T>C | |
| Ensemble | ENST00000291582.6:c.463+2T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2023-10-13 | criteria provided, multiple submitters, no conflicts | Polyglandular autoimmune syndrome, type 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-10-12 | criteria provided, single submitter | not provided |
germline
|
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.463+2T>C AND Polyglandular autoimmune syndrome, type 1 | ClinVar | Detail |
| NM_000383.4(AIRE):c.463+2T>C AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs786204478 dbSNP
- Genome
- hg19
- Position
- chr21:45,707,018-45,707,018
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser