Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Ala830Pro (p.A830P)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Ala830Pro (p.A830P) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- ClinVar
- Description
- NM_000222.3(KIT):c.2485G>C (p.Ala829Pro) AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 362812
- ClinVar RefSeq Alternation Syntax
- NM_001385290.1:c.2485G>C
- ClinVar RefSeq Alternation Syntax
- NM_001385284.1:c.2488G>C
- ClinVar RefSeq Alternation Syntax
- NM_001385292.1:c.2473G>C
- ClinVar RefSeq Alternation Syntax
- NM_001093772.2:c.2473G>C
- ClinVar RefSeq Alternation Syntax
- NM_001385286.1:c.2470G>C
- ClinVar RefSeq Alternation Syntax
- NM_001385285.1:c.2482G>C
- ClinVar RefSeq Alternation Syntax
- NM_000222.3:c.2485G>C
- ClinVar RefSeq Alternation Syntax
- NM_001385288.1:c.2476G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-01-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000428554
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- germline
- Observed Origin Sample
- somatic
Drugs