Annotation Detail
Information
- Associated Genes
- CPS1
- Associated Variants
-
CPS1 p.Thr1406Asn (p.T1406N)
(
ENST00000233072.10,
ENST00000430249.7,
ENST00000451903.3,
ENST00000673510.1,
ENST00000673630.1,
ENST00000673711.1 )
CPS1 p.Thr1406Asn (p.T1406N) ( ENST00000233072.10, ENST00000430249.7, ENST00000451903.3, ENST00000673510.1, ENST00000673630.1, ENST00000673711.1 ) - Associated Disease
- CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM
- Source Database
- ClinVar
- Description
- NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) AND CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM
- ClinVar Allele ID
- 134300
- ClinVar RefSeq Alternation Syntax
- NM_001369256.1:c.4250C>A
- ClinVar RefSeq Alternation Syntax
- NM_001122633.3:c.4217C>A
- ClinVar RefSeq Alternation Syntax
- NM_001369257.1:c.4217C>A
- ClinVar RefSeq Alternation Syntax
- NR_163592.1:n.3373C>A
- ClinVar RefSeq Alternation Syntax
- NM_001875.5:c.4217C>A
- ClinVar RefSeq Alternation Syntax
- NR_161225.1:n.5126C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2011-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003334453
- ClinVar Disease
- CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM
- Observed Origin Sample
- germline
- Pubmed
- 16708072
- Pubmed
- 15465784
- Pubmed
- 20154341
- Pubmed
- 21767969
- Pubmed
- 11407344
- Pubmed
- 14718356
Drugs