Annotation Detail
Information
- Associated Genes
- SFTPD
- Associated Variants
-
SFTPD p.Thr180Ala (p.T180A)
(
ENST00000372292.8 )
SFTPD p.Thr180Ala (p.T180A) ( ENST00000372292.8 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_003019.5(SFTPD):c.538A>G (p.Thr180Ala) AND not specified
- ClinVar Allele ID
- 175027
- ClinVar RefSeq Alternation Syntax
- NM_003019.5:c.538A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-05-08
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000151861
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs