Annotation Detail
Information
- Associated Genes
- C2 C2-AS1
- Associated Variants
-
ENSG00000244255 c.530-1292G>C, C2 p.Glu318Asp (p.E318D)
(
ENST00000299367.10,
ENST00000442278.6,
ENST00000447952.7,
ENST00000452323.7,
ENST00000469372.5,
ENST00000497706.6,
ENST00000695637.1,
ENST00000695638.1,
ENST00000695644.1 )
ENSG00000244255 c.530-1292G>C, C2 p.Glu318Asp (p.E318D) ( ENST00000299367.10, ENST00000442278.6, ENST00000447952.7, ENST00000452323.7, ENST00000469372.5, ENST00000497706.6, ENST00000695637.1, ENST00000695638.1, ENST00000695644.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000063.6(C2):c.954G>C (p.Glu318Asp) AND not specified
- ClinVar Allele ID
- 27169
- ClinVar RefSeq Alternation Syntax
- NM_001282457.2:c.216G>C
- ClinVar RefSeq Alternation Syntax
- NM_000063.6:c.954G>C
- ClinVar RefSeq Alternation Syntax
- NM_001145903.3:c.558G>C
- ClinVar RefSeq Alternation Syntax
- NM_001178063.3:c.347-1292G>C
- ClinVar RefSeq Alternation Syntax
- NM_001282458.2:c.867G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-03-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000454375
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs