Annotation Detail
Information
- Associated Genes
- COL11A1
- Associated Variants
-
COL11A1 p.Ser1535Pro (p.S1535P)
(
ENST00000358392.6,
ENST00000353414.8,
ENST00000370096.9,
ENST00000512756.5 )
COL11A1 p.Ser1535Pro (p.S1535P) ( ENST00000353414.8, ENST00000358392.6, ENST00000370096.9, ENST00000512756.5 ) - Associated Disease
- Stickler syndrome type 2
- Source Database
- ClinVar
- Description
- NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) AND Stickler syndrome type 2
- ClinVar Allele ID
- 32176
- ClinVar RefSeq Alternation Syntax
- NM_080629.3:c.4639T>C
- ClinVar RefSeq Alternation Syntax
- NM_080630.4:c.4255T>C
- ClinVar RefSeq Alternation Syntax
- NR_134980.2:n.4963T>C
- ClinVar RefSeq Alternation Syntax
- NM_001854.4:c.4603T>C
- ClinVar RefSeq Alternation Syntax
- NM_001190709.2:c.4486T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000292881
- ClinVar Disease
- Stickler syndrome type 2
- Observed Origin Sample
- germline
Drugs