Annotation Detail
Information
- Associated Genes
- CALR
- Associated Variants
-
CALR p.Lys385AsnfsTer47 (p.K385Nfs*47)
(
ENST00000316448.10,
ENST00000586760.2,
ENST00000588454.6 )
CALR p.Lys385AsnfsTer47 (p.K385Nfs*47) ( ENST00000316448.10, ENST00000586760.2, ENST00000588454.6 ) - Associated Disease
- Thrombocythemia 1
- Source Database
- ClinVar
- Description
- NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs) AND Thrombocythemia 1
- ClinVar Allele ID
- 1018499
- ClinVar RefSeq Alternation Syntax
- NM_004343.4:c.1154_1155insTTGTC
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-03-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001329863
- ClinVar Disease
- Thrombocythemia 1
- Observed Origin Sample
- unknown
Drugs