chr20:44626601:T>C Detail (hg38) (ADA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:43,255,242-43,255,242 View the variant detail on this assembly version. |
| hg38 | chr20:44,626,601-44,626,601 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000022.3:c.219-2A>G | |
| NM_001322050.1:c.219-2A>G | ||
| NM_001322051.1:c.219-2A>G |
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
|
2023-11-14 | reviewed by expert panel | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.324 | SCID Due to ADA Deficiency, Early-Onset | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000022.4(ADA):c.219-2A>G AND Severe combined immunodeficiency, autosomal recessive, T cell-negati... | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs387906267 dbSNP
- Genome
- hg38
- Position
- chr20:44,626,601-44,626,601
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser