Annotation Detail
Information
- Associated Genes
- TAC3
- Associated Variants
-
TAC3 p.His83Arg (p.H83R)
(
ENST00000458521.7,
ENST00000441881.5,
ENST00000415231.1 )
TAC3 p.His83Arg (p.H83R) ( ENST00000415231.1, ENST00000441881.5, ENST00000458521.7 ) - Associated Disease
- Delayed puberty
- Source Database
- ClinVar
- Description
- NM_013251.4(TAC3):c.248A>G (p.His83Arg) AND Delayed puberty
- ClinVar Allele ID
- 178340
- ClinVar RefSeq Alternation Syntax
- NM_001178054.2:c.239-414A>G
- ClinVar RefSeq Alternation Syntax
- NR_135165.2:n.396A>G
- ClinVar RefSeq Alternation Syntax
- NM_013251.4:c.248A>G
- ClinVar RefSeq Alternation Syntax
- NR_033654.2:n.396A>G
- ClinVar RefSeq Alternation Syntax
- NR_135164.2:n.396A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-11-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000156948
- ClinVar Disease
- Delayed puberty
- Observed Origin Sample
- unknown
Drugs