Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Ala335Val (p.A335V)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Ala335Val (p.A335V) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.1004C>T (p.Ala335Val) AND not provided
- ClinVar Allele ID
- 98799
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.1004C>T
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.1004C>T
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.611C>T
- ClinVar RefSeq Alternation Syntax
- NM_001079811.3:c.914C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.1148C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2012-10-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000173683
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs