Annotation Detail
Information
- Associated Genes
- PTGS1
- Associated Variants
-
PTGS1 p.Gln41= (p.Q41=)
(
ENST00000223423.8,
ENST00000362012.7,
ENST00000373698.7,
ENST00000540753.6,
ENST00000619306.5 )
PTGS1 p.Gln41= (p.Q41=) ( ENST00000223423.8, ENST00000362012.7, ENST00000373698.7, ENST00000540753.6, ENST00000619306.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000962.4(PTGS1):c.123G>A (p.Gln41=) AND not provided
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 1232617
- ClinVar RefSeq Alternation Syntax
- NM_080591.3:c.123G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271165.2:c.-205G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271367.2:c.-204-1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271368.2:c.48G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271166.2:c.-205G>A
- ClinVar RefSeq Alternation Syntax
- NM_000962.4:c.123G>A
- ClinVar RefSeq Alternation Syntax
- NM_001271164.2:c.123G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-12-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001647692
Drugs