Annotation Detail
Information
- Associated Genes
- NAA10
- Associated Variants
-
NAA10 p.Phe128Leu (p.F128L)
(
ENST00000370009.5,
ENST00000370015.8,
ENST00000393712.7,
ENST00000464845.6 )
NAA10 p.Phe128Leu (p.F128L) ( ENST00000370009.5, ENST00000370015.8, ENST00000393712.7, ENST00000464845.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) AND not provided
- ClinVar Allele ID
- 264811
- ClinVar RefSeq Alternation Syntax
- NM_003491.4:c.384T>G
- ClinVar RefSeq Alternation Syntax
- NM_001256119.2:c.341+243T>G
- ClinVar RefSeq Alternation Syntax
- NM_001256120.2:c.366T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-02-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000340214
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs