Annotation Detail

Information
Associated Genes
CYP19A1 PIRC66 MIR4713HG
Associated Variants
CYP19A1 c.*19C>T ( ENST00000396404.8, ENST00000396402.6, ENST00000559878.5 )
CYP19A1 c.*19C>T ( ENST00000396402.6, ENST00000396404.8, ENST00000559878.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000103.4(CYP19A1):c.*19C>T AND not provided
ClinVar Allele ID
340793
ClinVar RefSeq Alternation Syntax
NM_001347248.1:c.*19C>T
ClinVar RefSeq Alternation Syntax
NM_000103.4:c.*19C>T
ClinVar RefSeq Alternation Syntax
NM_001347249.2:c.*19C>T
ClinVar RefSeq Alternation Syntax
NM_001347252.2:c.*19C>T
ClinVar RefSeq Alternation Syntax
NM_001347253.2:c.*19C>T
ClinVar RefSeq Alternation Syntax
NM_001347251.2:c.*19C>T
ClinVar RefSeq Alternation Syntax
NM_001347250.2:c.*19C>T
ClinVar RefSeq Alternation Syntax
NM_001347255.2:c.*19C>T
ClinVar RefSeq Alternation Syntax
NM_001347256.2:c.*19C>T
ClinVar RefSeq Alternation Syntax
NM_001347254.2:c.*19C>T
ClinVar RefSeq Alternation Syntax
NM_031226.3:c.*19C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-22
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001519440
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs