Annotation Detail
Information
- Associated Genes
- NTRK1 SH2D2A
- Associated Variants
-
SH2D2A c.123+181C>T
(
ENST00000368199.8,
ENST00000368198.7,
ENST00000392302.7,
ENST00000392306.2,
ENST00000674537.2 )
SH2D2A c.123+181C>T ( ENST00000392302.7, ENST00000674537.2, ENST00000368198.7, ENST00000368199.8, ENST00000392306.2 ) - Associated Disease
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Source Database
- ClinVar
- Description
- NM_003975.4(SH2D2A):c.123+181C>T AND X-linked lymphoproliferative disease due to SH2D1A deficiency
- ClinVar Allele ID
- 364541
- ClinVar RefSeq Alternation Syntax
- NM_001161444.2:c.123+181C>T
- ClinVar RefSeq Alternation Syntax
- NM_001161442.2:c.69+181C>T
- ClinVar RefSeq Alternation Syntax
- NM_001007792.1:c.-5G>A
- ClinVar RefSeq Alternation Syntax
- NM_001161441.2:c.123+181C>T
- ClinVar RefSeq Alternation Syntax
- NM_001161443.2:c.39+181C>T
- ClinVar RefSeq Alternation Syntax
- NM_003975.4:c.123+181C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-07-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003316543
- ClinVar Disease
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Observed Origin Sample
- germline
Drugs