chr21:44293832:C>T Detail (hg38) (AIRE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:45,713,715-45,713,715 View the variant detail on this assembly version. |
| hg38 | chr21:44,293,832-44,293,832 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000383.3:c.1322C>T | NP_000374.1:p.Thr441Met |
| Ensemble | ENST00000291582.6:c.1322C>T | ENST00000291582.6:p.Thr441Met |
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 | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2023-09-01 | criteria provided, conflicting interpretations | not specified |
germline
|
Detail |
|
Conflicting interpretations of pathogenicity
|
2024-01-31 | criteria provided, conflicting interpretations | Polyglandular autoimmune syndrome, type 1 |
germline
inherited
unknown
|
Detail |
Uncertain significance
|
2023-03-01 | criteria provided, multiple submitters, no conflicts | 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.1322C>T (p.Thr441Met) AND not specified | ClinVar | Detail |
| NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) AND Polyglandular autoimmune syndrome, type 1 | ClinVar | Detail |
| NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) AND not provided | 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
- rs72650677 dbSNP
- Genome
- hg38
- Position
- chr21:44,293,832-44,293,832
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8362
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1958861516383641E-4
- Chromosome Counts in All Race (ExAC)
- 116910
- Allele Counts in All Race (ExAC)
- 155
- Heterozygous Counts in All Race (ExAC)
- 155
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.0013258061756907023
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