Annotation Detail

Information
Associated Genes
NRAS
Associated Variants
NRAS p.Gly13Asp (p.G13D) ( ENST00000369535.5 )
NRAS p.Gly13Asp (p.G13D) ( ENST00000369535.5 )
Associated Disease
Acute megakaryoblastic leukemia in down syndrome
Source Database
ClinVar
Description
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) AND Acute megakaryoblastic leukemia in down syndrome
ClinVar Allele ID
28940
ClinVar RefSeq Alternation Syntax
NM_002524.5:c.38G>A
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2020-09-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001293767
ClinVar Disease
Acute megakaryoblastic leukemia in down syndrome
Observed Origin Sample
somatic
Drugs