Annotation Detail
Information
- Associated Genes
- JAK2 INSL6
- Associated Variants
-
JAK2 c.1776+220G>A
(
ENST00000381652.4 )
JAK2 c.1776+220G>A ( ENST00000381652.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004972.4(JAK2):c.1776+220G>A AND not provided
- ClinVar Allele ID
- 1235787
- ClinVar RefSeq Alternation Syntax
- NM_004972.4:c.1776+220G>A
- ClinVar RefSeq Alternation Syntax
- NM_001322196.2:c.1776+220G>A
- ClinVar RefSeq Alternation Syntax
- NM_001322198.2:c.561+220G>A
- ClinVar RefSeq Alternation Syntax
- NM_001322199.2:c.561+220G>A
- ClinVar RefSeq Alternation Syntax
- NM_001322204.2:c.1329+220G>A
- ClinVar RefSeq Alternation Syntax
- NM_001322195.2:c.1776+220G>A
- ClinVar RefSeq Alternation Syntax
- NM_001322194.2:c.1776+220G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001656470
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs