Annotation Detail
Information
- Associated Genes
- HSPA1A
- Associated Variants
-
HSPA1A p.Glu110Asp (p.E110D)
(
ENST00000608703.1,
ENST00000375651.7 )
HSPA1A p.Glu110Asp (p.E110D) ( ENST00000375651.7, ENST00000608703.1 ) - Associated Disease
- chronic obstructive pulmonary disease
- Source Database
- ClinVar
- Description
- NM_005345.6(HSPA1A):c.330G>C (p.Glu110Asp) AND Chronic obstructive pulmonary disease
- ClinVar Allele ID
- 682504
- ClinVar RefSeq Alternation Syntax
- NM_005345.6:c.330G>C
- Clinical Significance Description
- association
- Clinical Significance Last Update
- 2019-08-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000856574
- ClinVar Disease
- Chronic obstructive pulmonary disease
- Observed Origin Sample
- germline
Drugs