Annotation Detail
Information
- Associated Genes
- COL11A1
- Associated Variants
-
COL11A1 c.652-18_652-17delTT
(
ENST00000645458.1,
ENST00000353414.8,
ENST00000358392.6,
ENST00000512756.5,
ENST00000461720.6,
ENST00000370096.9,
ENST00000644186.1,
ENST00000647280.1 )
COL11A1 c.652-18_652-17delTT ( ENST00000353414.8, ENST00000358392.6, ENST00000370096.9, ENST00000461720.6, ENST00000512756.5, ENST00000644186.1, ENST00000645458.1, ENST00000647280.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001854.4(COL11A1):c.652-7_652-6del AND not specified
- ClinVar Allele ID
- 194896
- ClinVar RefSeq Alternation Syntax
- NM_001190709.2:c.652-7_652-6del
- ClinVar RefSeq Alternation Syntax
- NM_080630.4:c.652-7_652-6del
- ClinVar RefSeq Alternation Syntax
- NM_001854.4:c.652-7_652-6del
- ClinVar RefSeq Alternation Syntax
- NM_080629.3:c.652-7_652-6del
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-01-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000178855
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs