Annotation Detail
Information
- Associated Genes
- GC
- Associated Variants
-
GC p.Asp451Glu (p.D451E)
(
ENST00000273951.13,
ENST00000504199.5,
ENST00000513476.5 )
GC p.Asp451Glu (p.D451E) ( ENST00000273951.13, ENST00000504199.5, ENST00000513476.5 ) - Associated Disease
- GC1/GC2 POLYMORPHISM
- Source Database
- ClinVar
- Description
- NM_000583.4(GC):c.1296T>G (p.Asp432Glu) AND GC1/GC2 POLYMORPHISM
- ClinVar Allele ID
- 31026
- ClinVar RefSeq Alternation Syntax
- NM_001204307.1:c.1353T>G
- ClinVar RefSeq Alternation Syntax
- NM_001204306.1:c.1296T>G
- ClinVar RefSeq Alternation Syntax
- NM_000583.4:c.1296T>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 1992-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017357
- ClinVar Disease
- GC1/GC2 POLYMORPHISM
- Observed Origin Sample
- germline
- Pubmed
- 1352271
Drugs