chr21:45706561:A>G Detail (hg19) (AIRE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:45,706,561-45,706,561 |
| hg38 | chr21:44,286,678-44,286,678 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000383.3:c.254A>G | NP_000374.1:p.Tyr85Cys |
| Ensemble | ENST00000291582.6:c.254A>G | ENST00000291582.6:p.Tyr85Cys |
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
|
2023-07-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
not provided
|
Detail |
|
Pathogenic
Likely pathogenic
|
2024-01-18 | criteria provided, multiple submitters, no conflicts | Polyglandular autoimmune syndrome, type 1 |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.335 | Polyglandular Type I Autoimmune Syndrome | NA | CLINVAR | Detail | |
| 0.335 | Polyglandular Type I Autoimmune Syndrome | AIRE mutations and human leukocyte antigen genotypes as determinants of the auto... | UNIPROT | 12050215 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) AND not provided | ClinVar | Detail |
| NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) AND Polyglandular autoimmune syndrome, type 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrino... | 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
- rs179363882 dbSNP
- Genome
- hg19
- Position
- chr21:45,706,561-45,706,561
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser