Annotation Detail
Information
- Associated Genes
- NPM1
- Associated Variants
-
NPM1 p.Trp288CysfsTer12 (p.W288Cfs*12)
(
ENST00000679190.1,
ENST00000677357.1,
ENST00000296930.10,
ENST00000351986.10,
ENST00000517671.5,
ENST00000521672.6,
ENST00000676589.1,
ENST00000677297.1,
ENST00000677325.1,
ENST00000677907.1 )
NPM1 p.Trp288CysfsTer12 (p.W288Cfs*12) ( ENST00000296930.10, ENST00000351986.10, ENST00000517671.5, ENST00000521672.6, ENST00000676589.1, ENST00000677297.1, ENST00000677325.1, ENST00000677357.1, ENST00000677907.1, ENST00000679190.1 ) - Associated Disease
- Myelodysplastic syndrome progressed to acute myeloid leukemia
- Source Database
- ClinVar
- Description
- NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) AND Myelodysplastic syndrome progressed to acute myeloid leukemia
- ClinVar Allele ID
- 29037
- ClinVar RefSeq Alternation Syntax
- NR_149149.2:n.832_835dup
- ClinVar RefSeq Alternation Syntax
- NM_001355010.2:c.479_482dup
- ClinVar RefSeq Alternation Syntax
- NM_199185.4:c.773_776dup
- ClinVar RefSeq Alternation Syntax
- NM_002520.7:c.860_863dup
- ClinVar RefSeq Alternation Syntax
- NM_001355007.2:c.668_671dup
- ClinVar RefSeq Alternation Syntax
- NM_001355006.2:c.860_863dup
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-01-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000203461
- ClinVar Disease
- Myelodysplastic syndrome progressed to acute myeloid leukemia
- Observed Origin Sample
- somatic
Drugs