Annotation Detail
Information
- Associated Genes
- C2
- Associated Variants
-
ENSG00000244255 c.901+62G>T, C2 c.1360+62G>T
(
ENST00000299367.10,
ENST00000442278.6,
ENST00000447952.7,
ENST00000452323.7,
ENST00000469372.5,
ENST00000497706.6,
ENST00000695637.1,
ENST00000695638.1,
ENST00000695644.1 )
ENSG00000244255 c.901+62G>T, C2 c.1360+62G>T ( ENST00000299367.10, ENST00000442278.6, ENST00000447952.7, ENST00000452323.7, ENST00000469372.5, ENST00000497706.6, ENST00000695637.1, ENST00000695638.1, ENST00000695644.1 ) - Associated Disease
- age related macular degeneration 14
- Source Database
- ClinVar
- Description
- NM_000063.6(C2):c.1360+62G>T AND Age related macular degeneration 14
- ClinVar Allele ID
- 27170
- ClinVar RefSeq Alternation Syntax
- NM_001282457.2:c.622+62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001145903.3:c.964+62G>T
- ClinVar RefSeq Alternation Syntax
- NM_000063.6:c.1360+62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001282458.2:c.1273+62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001178063.3:c.718+62G>T
- Clinical Significance Description
- protective
- Clinical Significance Last Update
- 2015-05-18
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012914
- ClinVar Disease
- Age related macular degeneration 14
- Observed Origin Sample
- germline
- Pubmed
- 16518403
- Pubmed
- 16936732
Drugs