Annotation Detail
Information
- Associated Genes
- PTPRC
- Associated Variants
-
PTPRC c.3073-6A>G
(
ENST00000697632.1,
ENST00000697631.1,
ENST00000442510.8,
ENST00000348564.11 )
PTPRC c.3073-6A>G ( ENST00000348564.11, ENST00000442510.8, ENST00000697631.1, ENST00000697632.1 ) - Associated Disease
- Immunodeficiency 105
- Source Database
- ClinVar
- Description
- NM_002838.5(PTPRC):c.3073-6A>G AND Immunodeficiency 105
- ClinVar Allele ID
- 515441
- ClinVar RefSeq Alternation Syntax
- NM_002838.5:c.3073-6A>G
- ClinVar RefSeq Alternation Syntax
- NM_080921.4:c.2590-6A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-03-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003224361
- ClinVar Disease
- Immunodeficiency 105
- Observed Origin Sample
- germline
Drugs