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 )
Source Database
ClinVar
Description
NM_000583.4(GC):c.1296T>G (p.Asp432Glu) AND Periodontitis
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
2023-04-20
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003992157
Observed Origin Sample
germline
Drugs