Annotation Detail
Information
- Associated Genes
- HNF4A
- Associated Variants
-
HNF4A c.116-5C>T
(
ENST00000316099.10,
ENST00000316673.9,
ENST00000415691.2,
ENST00000443598.6,
ENST00000457232.5,
ENST00000609795.5 )
HNF4A c.116-5C>T ( ENST00000316099.10, ENST00000316673.9, ENST00000415691.2, ENST00000443598.6, ENST00000457232.5, ENST00000609795.5 ) - Source Database
- ClinVar
- Description
- NM_175914.5(HNF4A):c.50-5C>T AND Glycosuria
- ClinVar RefSeq Alternation Syntax
- NM_178849.3:c.116-5C>T
- ClinVar Allele ID
- 134685
- ClinVar RefSeq Alternation Syntax
- NM_001287183.2:c.41-5C>T
- ClinVar RefSeq Alternation Syntax
- NM_001287184.2:c.41-5C>T
- ClinVar RefSeq Alternation Syntax
- NM_001030004.3:c.50-5C>T
- ClinVar RefSeq Alternation Syntax
- NM_175914.5:c.50-5C>T
- ClinVar RefSeq Alternation Syntax
- NM_001030003.3:c.50-5C>T
- ClinVar RefSeq Alternation Syntax
- NM_001287182.2:c.41-5C>T
- ClinVar RefSeq Alternation Syntax
- NM_000457.6:c.116-5C>T
- ClinVar RefSeq Alternation Syntax
- NM_178850.3:c.116-5C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258355.2:c.95-5C>T
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002226672
- Observed Origin Sample
- somatic
Drugs