Annotation Detail
Information
- Associated Genes
- ADA
- Associated Variants
-
ADA p.Leu304Arg (p.L304R)
(
ENST00000372874.9,
ENST00000536076.2,
ENST00000537820.2,
ENST00000695889.1,
ENST00000695927.1,
ENST00000695949.1,
ENST00000695991.1,
ENST00000695993.1,
ENST00000695995.1,
ENST00000696017.1,
ENST00000696058.1,
ENST00000696060.1,
ENST00000696061.1,
ENST00000696062.1,
ENST00000696063.1,
ENST00000696064.1,
ENST00000696065.1,
ENST00000696076.1,
ENST00000696077.1,
ENST00000696078.1,
ENST00000696079.1,
ENST00000696080.1,
ENST00000696082.1,
ENST00000372887.5 )
ADA p.Leu304Arg (p.L304R) ( ENST00000372874.9, ENST00000536076.2, ENST00000537820.2, ENST00000695889.1, ENST00000695927.1, ENST00000695949.1, ENST00000695991.1, ENST00000695993.1, ENST00000695995.1, ENST00000696017.1, ENST00000696058.1, ENST00000696060.1, ENST00000696061.1, ENST00000696062.1, ENST00000696063.1, ENST00000696064.1, ENST00000696065.1, ENST00000696076.1, ENST00000696077.1, ENST00000696078.1, ENST00000696079.1, ENST00000696080.1, ENST00000696082.1, ENST00000372887.5 ) - Associated Disease
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- Source Database
- ClinVar
- Description
- NM_000022.4(ADA):c.911T>G (p.Leu304Arg) AND Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- ClinVar Allele ID
- 16997
- ClinVar RefSeq Alternation Syntax
- NM_001322051.2:c.839T>G
- ClinVar RefSeq Alternation Syntax
- NR_136160.2:n.938T>G
- ClinVar RefSeq Alternation Syntax
- NM_001322050.2:c.506T>G
- ClinVar RefSeq Alternation Syntax
- NM_000022.4:c.911T>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002035
- ClinVar Disease
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 3007108
- Pubmed
- 46025
Drugs