Annotation Detail
Information
- Associated Genes
- SDHB
- Associated Variants
-
SDHB p.Thr60= (p.T60=)
(
ENST00000714031.1,
ENST00000714032.1,
ENST00000485515.6,
ENST00000714034.1,
ENST00000375499.8,
ENST00000714037.1,
ENST00000463045.3 )
SDHB p.Thr60= (p.T60=) ( ENST00000375499.8, ENST00000463045.3, ENST00000485515.6, ENST00000714031.1, ENST00000714032.1, ENST00000714034.1, ENST00000714037.1 ) - Associated Disease
- gastrointestinal stromal tumor pheochromocytoma Paragangliomas 4
- Source Database
- ClinVar
- Description
- NM_003000.3(SDHB):c.180T>A (p.Thr60=) AND multiple conditions
- ClinVar Allele ID
- 1130597
- ClinVar RefSeq Alternation Syntax
- NM_003000.3:c.180T>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2022-10-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001499893
- ClinVar Disease
- Pheochromocytoma
- ClinVar Disease
- Paragangliomas 4
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- germline
Drugs