Annotation Detail
Information
- Associated Genes
- SDHC
- Associated Variants
-
SDHC c.405+1G>A
(
ENST00000714064.1,
ENST00000513009.5,
ENST00000515731.2,
ENST00000714063.1,
ENST00000367975.7,
ENST00000714066.1,
ENST00000432287.6,
ENST00000342751.8,
ENST00000714065.1,
ENST00000392169.6 )
SDHC c.405+1G>A ( ENST00000342751.8, ENST00000367975.7, ENST00000392169.6, ENST00000432287.6, ENST00000513009.5, ENST00000515731.2, ENST00000714063.1, ENST00000714064.1, ENST00000714065.1, ENST00000714066.1 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- ClinVar
- Description
- NM_003001.5(SDHC):c.405+1G>A AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 22283
- ClinVar RefSeq Alternation Syntax
- NM_001035512.3:c.303+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278172.3:c.140-5488G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407121.1:c.185-5488G>A
- ClinVar RefSeq Alternation Syntax
- NM_003001.5:c.405+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407115.1:c.525+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407120.1:c.294+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001035511.3:c.242-5488G>A
- ClinVar RefSeq Alternation Syntax
- NM_001035513.3:c.246+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407117.1:c.342+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407119.1:c.294+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407118.1:c.297+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407116.1:c.348+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-01-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000023194
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- germline
- Pubmed
- 17667967
- Pubmed
- 17804857
- Pubmed
- 21173220
Drugs