Annotation Detail
Information
- Associated Genes
- ITPR1
- Associated Variants
-
ITPR1 p.Pro1084Leu (p.P1084L)
(
ENST00000354582.12,
ENST00000357086.10,
ENST00000443694.5,
ENST00000456211.8,
ENST00000544951.6,
ENST00000648266.1,
ENST00000648309.1,
ENST00000649015.2,
ENST00000650294.1 )
ITPR1 p.Pro1084Leu (p.P1084L) ( ENST00000354582.12, ENST00000357086.10, ENST00000443694.5, ENST00000456211.8, ENST00000544951.6, ENST00000648266.1, ENST00000648309.1, ENST00000649015.2, ENST00000650294.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) AND not provided
- ClinVar Allele ID
- 508732
- ClinVar RefSeq Alternation Syntax
- NM_001168272.2:c.3206C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099952.4:c.3224C>T
- ClinVar RefSeq Alternation Syntax
- NM_001378452.1:c.3251C>T
- ClinVar RefSeq Alternation Syntax
- NM_002222.7:c.3179C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-06-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001770541
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs