Annotation Detail
Information
- Associated Genes
- SDHC
- Associated Variants
-
SDHC p.Ala3ArgfsTer4 (p.A3Rfs*4)
(
ENST00000714064.1,
ENST00000513009.5,
ENST00000515731.2,
ENST00000367975.7,
ENST00000714063.1,
ENST00000342751.8,
ENST00000432287.6,
ENST00000392169.6 )
SDHC p.Ala3ArgfsTer4 (p.A3Rfs*4) ( ENST00000342751.8, ENST00000367975.7, ENST00000392169.6, ENST00000432287.6, ENST00000513009.5, ENST00000515731.2, ENST00000714063.1, ENST00000714064.1 ) - Associated Disease
- Carney triad
- Source Database
- ClinVar
- Description
- NM_003001.5(SDHC):c.6del (p.Ala3fs) AND Carney triad
- ClinVar Allele ID
- 187697
- ClinVar RefSeq Alternation Syntax
- NM_001407115.1:c.6delT
- ClinVar RefSeq Alternation Syntax
- NM_003001.5:c.6del
- ClinVar RefSeq Alternation Syntax
- NM_001407121.1:c.6delT
- ClinVar RefSeq Alternation Syntax
- NM_001407116.1:c.6delT
- ClinVar RefSeq Alternation Syntax
- NM_001035513.3:c.6delT
- ClinVar RefSeq Alternation Syntax
- NM_001035511.3:c.6delT
- ClinVar RefSeq Alternation Syntax
- NM_001035512.3:c.6delT
- ClinVar RefSeq Alternation Syntax
- NM_001407117.1:c.6delT
- ClinVar RefSeq Alternation Syntax
- NM_001407118.1:c.6delT
- ClinVar RefSeq Alternation Syntax
- NM_001278172.3:c.6delT
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000170331
- ClinVar Disease
- Carney triad
- Observed Origin Sample
- germline
Drugs