Annotation Detail

Information
Associated Genes
AGTR1
Associated Variants
AGTR1 p.Leu191= (p.L191=) ( ENST00000349243.8, ENST00000402260.2, ENST00000404754.2, ENST00000418473.7, ENST00000461609.1, ENST00000474935.5, ENST00000475347.5, ENST00000497524.5 )
AGTR1 p.Leu191= (p.L191=) ( ENST00000349243.8, ENST00000402260.2, ENST00000404754.2, ENST00000418473.7, ENST00000461609.1, ENST00000474935.5, ENST00000475347.5, ENST00000497524.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000685.5(AGTR1):c.573C>T (p.Leu191=) AND not provided
ClinVar Allele ID
250978
ClinVar RefSeq Alternation Syntax
NM_000685.5:c.573C>T
ClinVar RefSeq Alternation Syntax
NM_001382736.1:c.573C>T
ClinVar RefSeq Alternation Syntax
NM_031850.4:c.573C>T
ClinVar RefSeq Alternation Syntax
NM_001382737.1:c.573C>T
ClinVar RefSeq Alternation Syntax
NM_004835.5:c.573C>T
ClinVar RefSeq Alternation Syntax
NM_009585.4:c.573C>T
ClinVar RefSeq Alternation Syntax
NM_032049.4:c.573C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-31
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001640490
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs