Annotation Detail

Information
Associated Genes
FAM13A
Associated Variants
FAM13A c.606-24587G>A ( ENST00000264344.10, ENST00000509094.5, ENST00000511976.5 )
FAM13A c.606-24587G>A ( ENST00000264344.10, ENST00000509094.5, ENST00000511976.5 )
Associated Disease
chronic obstructive pulmonary disease
Source Database
ClinVar
Description
NM_014883.4(FAM13A):c.606-24587G>A AND Chronic obstructive pulmonary disease
ClinVar Allele ID
1015401
ClinVar RefSeq Alternation Syntax
NM_014883.4:c.606-24587G>A
Clinical Significance Description
association
Clinical Significance Last Update
2020-02-03
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001328405
ClinVar Disease
Chronic obstructive pulmonary disease
Observed Origin Sample
germline
Drugs