Annotation Detail
Information
- Associated Genes
- SDHC
- Associated Variants
-
SDHC p.Arg133Ter (p.R133*)
(
ENST00000342751.8,
ENST00000432287.6,
ENST00000714066.1,
ENST00000392169.6,
ENST00000714065.1,
ENST00000513009.5,
ENST00000714064.1,
ENST00000367975.7,
ENST00000714063.1,
ENST00000515731.2 )
SDHC p.Arg133Ter (p.R133*) ( ENST00000342751.8, ENST00000367975.7, ENST00000392169.6, ENST00000432287.6, ENST00000513009.5, ENST00000515731.2, ENST00000714063.1, ENST00000714064.1, ENST00000714065.1, ENST00000714066.1 ) - Associated Disease
- Carney-Stratakis syndrome
- Source Database
- ClinVar
- Description
- NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND Carney-Stratakis syndrome
- ClinVar Allele ID
- 181600
- ClinVar RefSeq Alternation Syntax
- NM_001407115.1:c.517C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407120.1:c.286C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407119.1:c.286C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407116.1:c.340C>T
- ClinVar RefSeq Alternation Syntax
- NM_001035512.3:c.295C>T
- ClinVar RefSeq Alternation Syntax
- NM_003001.5:c.397C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407121.1:c.185-5497C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407117.1:c.334C>T
- ClinVar RefSeq Alternation Syntax
- NM_001035511.3:c.242-5497C>T
- ClinVar RefSeq Alternation Syntax
- NM_001278172.3:c.140-5497C>T
- ClinVar RefSeq Alternation Syntax
- NR_103459.3:n.449C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407118.1:c.289C>T
- ClinVar RefSeq Alternation Syntax
- NM_001035513.3:c.238C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-08-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001329019
- ClinVar Disease
- Carney-Stratakis syndrome
- Observed Origin Sample
- unknown
Drugs