Annotation Detail
Information
- Associated Genes
- COL11A1
- Associated Variants
-
COL11A1 p.Gly904Val (p.G904V)
(
ENST00000512756.5,
ENST00000358392.6,
ENST00000353414.8,
ENST00000370096.9 )
COL11A1 p.Gly904Val (p.G904V) ( ENST00000353414.8, ENST00000358392.6, ENST00000370096.9, ENST00000512756.5 ) - Associated Disease
- Stickler syndrome type 2
- Source Database
- ClinVar
- Description
- NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) AND Stickler syndrome type 2
- ClinVar Allele ID
- 1174087
- ClinVar RefSeq Alternation Syntax
- NM_080629.3:c.2747G>T
- ClinVar RefSeq Alternation Syntax
- NM_080630.4:c.2363G>T
- ClinVar RefSeq Alternation Syntax
- NM_001190709.2:c.2594G>T
- ClinVar RefSeq Alternation Syntax
- NR_134980.2:n.3071G>T
- ClinVar RefSeq Alternation Syntax
- NM_001854.4:c.2711G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-07-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001542314
- ClinVar Disease
- Stickler syndrome type 2
- Observed Origin Sample
- inherited
Drugs