Annotation Detail

Information
Associated Genes
HSPA1A
Associated Variants
HSPA1A p.Gln351= (p.Q351=) ( ENST00000375651.7, ENST00000608703.1 )
HSPA1A p.Gln351= (p.Q351=) ( ENST00000375651.7, ENST00000608703.1 )
Associated Disease
chronic obstructive pulmonary disease
Source Database
ClinVar
Description
NM_005345.6(HSPA1A):c.1053G>A (p.Gln351=) AND Chronic obstructive pulmonary disease
ClinVar Allele ID
682505
ClinVar RefSeq Alternation Syntax
NM_005345.6:c.1053G>A
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/RCV000856577
ClinVar Disease
Chronic obstructive pulmonary disease
Observed Origin Sample
germline
Drugs