Annotation Detail
Information
- Associated Genes
- ARG1
- Associated Variants
-
ARG1 p.Ile11Thr (p.I11T)
(
ENST00000368087.8,
ENST00000672233.1,
ENST00000673427.1,
ENST00000356962.2 )
ARG1 p.Ile11Thr (p.I11T) ( ENST00000356962.2, ENST00000368087.8, ENST00000672233.1, ENST00000673427.1 ) - Associated Disease
- Arginase deficiency
- Source Database
- ClinVar
- Description
- NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) AND Arginase deficiency
- ClinVar Allele ID
- 17432
- ClinVar RefSeq Alternation Syntax
- NR_160934.1:n.89T>C
- ClinVar RefSeq Alternation Syntax
- NM_001244438.2:c.32T>C
- ClinVar RefSeq Alternation Syntax
- NM_001369020.1:c.32T>C
- ClinVar RefSeq Alternation Syntax
- NM_000045.4:c.32T>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-09-19
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002494
- ClinVar Disease
- Arginase deficiency
- Observed Origin Sample
- germline
- Pubmed
- 480013
- Pubmed
- 7649538
Drugs