Annotation Detail
Information
- Associated Genes
- COL11A1
- Associated Variants
-
COL11A1 p.Pro1323Leu (p.P1323L)
(
ENST00000353414.8,
ENST00000358392.6,
ENST00000512756.5,
ENST00000370096.9 )
COL11A1 p.Pro1323Leu (p.P1323L) ( ENST00000353414.8, ENST00000358392.6, ENST00000370096.9, ENST00000512756.5 ) - Associated Disease
- Hearing loss, autosomal dominant 37
- Source Database
- ClinVar
- Description
- NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) AND Hearing loss, autosomal dominant 37
- ClinVar Allele ID
- 249279
- ClinVar RefSeq Alternation Syntax
- NM_080629.3:c.4004C>T
- ClinVar RefSeq Alternation Syntax
- NR_134980.2:n.4328C>T
- ClinVar RefSeq Alternation Syntax
- NM_001854.4:c.3968C>T
- ClinVar RefSeq Alternation Syntax
- NM_080630.4:c.3620C>T
- ClinVar RefSeq Alternation Syntax
- NM_001190709.2:c.3851C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001582848
- ClinVar Disease
- Hearing loss, autosomal dominant 37
- Observed Origin Sample
- germline
Drugs