Annotation Detail
Information
- Associated Genes
- SLC25A13
- Associated Variants
-
SLC25A13 p.Asn629= (p.N629=)
(
ENST00000265631.10,
ENST00000416240.6 )
SLC25A13 p.Asn629= (p.N629=) ( ENST00000265631.10, ENST00000416240.6 ) - Associated Disease
- Late-onset citrullinemia
- Source Database
- ClinVar
- Description
- NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) AND Late-onset citrullinemia
- ClinVar Allele ID
- 312094
- ClinVar RefSeq Alternation Syntax
- NM_001160210.2:c.1887C>T
- ClinVar RefSeq Alternation Syntax
- NM_014251.3:c.1884C>T
- ClinVar RefSeq Alternation Syntax
- NR_027662.2:n.1910C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-09-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001277067
- ClinVar Disease
- Late-onset citrullinemia
- Observed Origin Sample
- germline
Drugs