Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Trp558_Lys559del (p.W558_K559del)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1,
ENST00000687109.1,
ENST00000687246.1 )
KIT p.Trp558_Lys559del (p.W558_K559del) ( 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.1669_1674del (p.Trp557_Lys558del) AND Gastrointestinal stromal tumor
- ClinVar Allele ID
- 224676
- ClinVar RefSeq Alternation Syntax
- NM_001093772.2:c.1657_1662del
- ClinVar RefSeq Alternation Syntax
- NM_001385292.1:c.1660_1665del
- ClinVar RefSeq Alternation Syntax
- NM_001385284.1:c.1672_1677del
- ClinVar RefSeq Alternation Syntax
- NM_001385286.1:c.1657_1662del
- ClinVar RefSeq Alternation Syntax
- NM_001385290.1:c.1672_1677del
- ClinVar RefSeq Alternation Syntax
- NM_001385285.1:c.1669_1674del
- ClinVar RefSeq Alternation Syntax
- NM_001385288.1:c.1660_1665del
- ClinVar RefSeq Alternation Syntax
- NM_000222.3:c.1669_1674del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-02-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000208566
- ClinVar Disease
- Gastrointestinal stromal tumor
- Observed Origin Sample
- unknown
Drugs