Annotation Detail
Information
- Associated Genes
- NR1I3
- Associated Variants
-
NR1I3 p.Pro180= (p.P180=)
(
ENST00000515452.1,
ENST00000367983.9,
ENST00000506209.5,
ENST00000504010.5,
ENST00000508387.5,
ENST00000367984.8,
ENST00000511748.5,
ENST00000442691.6,
ENST00000508740.5,
ENST00000367982.8,
ENST00000367981.7,
ENST00000428574.6,
ENST00000437437.6,
ENST00000628566.2,
ENST00000367985.7,
ENST00000502985.5,
ENST00000367980.6,
ENST00000412844.6,
ENST00000511676.5,
ENST00000505005.5,
ENST00000512372.5,
ENST00000511944.5,
ENST00000367979.6,
ENST00000515621.5 )
NR1I3 p.Pro180= (p.P180=) ( ENST00000367979.6, ENST00000367980.6, ENST00000367981.7, ENST00000367982.8, ENST00000367983.9, ENST00000367984.8, ENST00000367985.7, ENST00000412844.6, ENST00000428574.6, ENST00000437437.6, ENST00000442691.6, ENST00000502985.5, ENST00000504010.5, ENST00000505005.5, ENST00000506209.5, ENST00000508387.5, ENST00000508740.5, ENST00000511676.5, ENST00000511748.5, ENST00000511944.5, ENST00000512372.5, ENST00000515452.1, ENST00000515621.5, ENST00000628566.2 ) - Associated Disease
- NR1I3-related disorder
- Source Database
- ClinVar
- Description
- NM_005122.5(NR1I3):c.540C>T (p.Pro180=) AND NR1I3-related disorder
- ClinVar Allele ID
- 194933
- ClinVar RefSeq Alternation Syntax
- NM_001077480.3:c.540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077472.3:c.453C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077479.3:c.453C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077469.3:c.540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077482.3:c.540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077474.3:c.540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077470.3:c.453C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077476.3:c.453C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077471.3:c.540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077478.3:c.540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077481.3:c.540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077477.3:c.453C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077473.3:c.453C>T
- ClinVar RefSeq Alternation Syntax
- NM_005122.5:c.540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001077475.3:c.453C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003977468
- ClinVar Disease
- NR1I3-related disorder
- Observed Origin Sample
- germline
Drugs