Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Ile1250Thr (p.I1250T)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Ile1250Thr (p.I1250T) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 34719
- ClinVar RefSeq Alternation Syntax
- NM_001353765.2:c.545T>C
- ClinVar RefSeq Alternation Syntax
- NM_004304.5:c.3749T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-09-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002345252
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs