chr11:36593841:T>G Detail (hg38) (RAG2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:36,615,391-36,615,391 View the variant detail on this assembly version. |
| hg38 | chr11:36,593,841-36,593,841 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000536.3:c.328A>C | NP_000527.2:p.Met110Leu |
| Ensemble | ENST00000311485.8:c.328A>C | ENST00000311485.8:p.Met110Leu |
| ENST00000527033.6:c.328A>C | ENST00000527033.6:p.Met110Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
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 |
|---|---|---|---|---|---|
Likely pathogenic
|
2011-08-18 | criteria provided, single submitter | Severe combined immunodeficiency disease |
germline
|
Detail |
Uncertain significance
|
2018-03-06 | criteria provided, single submitter | Inborn error of immunity,recombinase activating gene 2 deficiency |
germline
|
Detail |
|
Uncertain significance
|
2018-03-06 | criteria provided, single submitter | Inborn error of immunity,recombinase activating gene 2 deficiency |
germline
|
Detail |
|
Uncertain significance
|
2021-08-27 | criteria provided, single submitter | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive,Combined immunodeficiency with skin granulomas |
germline
|
Detail |
|
Uncertain significance
|
2021-08-27 | criteria provided, single submitter | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive,Combined immunodeficiency with skin granulomas |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.139 | severe combined immunodeficiency | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000536.4(RAG2):c.328A>C (p.Met110Leu) AND Severe combined immunodeficiency disease | ClinVar | Detail |
| NM_000536.4(RAG2):c.328A>C (p.Met110Leu) AND multiple conditions | ClinVar | Detail |
| NM_000536.4(RAG2):c.328A>C (p.Met110Leu) AND multiple conditions | ClinVar | Detail |
| NM_000536.4(RAG2):c.328A>C (p.Met110Leu) AND multiple conditions | ClinVar | Detail |
| NM_000536.4(RAG2):c.328A>C (p.Met110Leu) AND multiple conditions | 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
- rs193922575 dbSNP
- Genome
- hg38
- Position
- chr11:36,593,841-36,593,841
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser