Annotation Detail
Information
- Associated Genes
- GLB1 TMPPE LOC129936434
- Associated Variants
-
TMPPE c.-475A>C, GLB1 p.? (p.?)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000342462.5 )
TMPPE c.-475A>C, GLB1 p.? (p.?) ( ENST00000307363.10, ENST00000307377.12, ENST00000342462.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000404.4(GLB1):c.1A>C (p.Met1Leu) AND not provided
- ClinVar Allele ID
- 190258
- ClinVar RefSeq Alternation Syntax
- NM_001393580.1:c.1A>C
- ClinVar RefSeq Alternation Syntax
- NM_001136238.2:c.-371A>C
- ClinVar RefSeq Alternation Syntax
- NM_001039770.3:c.-475A>C
- ClinVar RefSeq Alternation Syntax
- NM_000404.4:c.1A>C
- ClinVar RefSeq Alternation Syntax
- NM_001317040.2:c.1A>C
- ClinVar RefSeq Alternation Syntax
- NM_001135602.3:c.1A>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-04-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000173126
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs