Annotation Detail
Information
- Associated Genes
- ARG1 MED23
- Associated Variants
-
ARG1 p.Arg21Ter (p.R21*)
(
ENST00000356962.2,
ENST00000368087.8,
ENST00000672233.1,
ENST00000673427.1,
ENST00000354577.8 )
ARG1 p.Arg21Ter (p.R21*) ( ENST00000356962.2, ENST00000368087.8, ENST00000672233.1, ENST00000673427.1, ENST00000354577.8 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) AND Inborn genetic diseases
- ClinVar Allele ID
- 17436
- ClinVar RefSeq Alternation Syntax
- NM_001270521.2:c.4078-2371G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369020.1:c.61C>T
- ClinVar RefSeq Alternation Syntax
- NM_015979.4:c.4096-2371G>A
- ClinVar RefSeq Alternation Syntax
- NM_001244438.2:c.61C>T
- ClinVar RefSeq Alternation Syntax
- NM_000045.4:c.61C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002512678
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs