Annotation Detail
Information
- Associated Genes
- SHBG
- Associated Variants
-
SHBG p.Asp356Asn (p.D356N)
(
ENST00000570547.5,
ENST00000416273.7,
ENST00000380450.9,
ENST00000572182.5,
ENST00000572262.5,
ENST00000340624.9,
ENST00000575314.5,
ENST00000575903.5,
ENST00000574539.5,
ENST00000576478.5,
ENST00000441599.6,
ENST00000576728.5 )
SHBG p.Asp356Asn (p.D356N) ( ENST00000340624.9, ENST00000380450.9, ENST00000416273.7, ENST00000441599.6, ENST00000570547.5, ENST00000572182.5, ENST00000572262.5, ENST00000574539.5, ENST00000575314.5, ENST00000575903.5, ENST00000576478.5, ENST00000576728.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001040.5(SHBG):c.1066G>A (p.Asp356Asn) AND not provided
- ClinVar Allele ID
- 1212848
- ClinVar RefSeq Alternation Syntax
- NM_001289115.2:c.684G>A
- ClinVar RefSeq Alternation Syntax
- NM_001146281.3:c.721G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289113.2:c.892G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289114.2:c.892G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289116.2:c.718G>A
- ClinVar RefSeq Alternation Syntax
- NM_001146279.3:c.1012G>A
- ClinVar RefSeq Alternation Syntax
- NM_001040.5:c.1066G>A
- ClinVar RefSeq Alternation Syntax
- NM_001146280.3:c.858G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-06-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001598080
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs