Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Lys643Glu (p.K643E)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Lys643Glu (p.K643E) ( 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, familial
- Source Database
- ClinVar
- Description
- NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) AND Gastrointestinal stromal tumor, familial
- ClinVar Allele ID
- 28905
- ClinVar RefSeq Alternation Syntax
- NM_001385288.1:c.1915A>G
- ClinVar RefSeq Alternation Syntax
- NM_001385292.1:c.1915A>G
- ClinVar RefSeq Alternation Syntax
- NM_001093772.2:c.1912A>G
- ClinVar RefSeq Alternation Syntax
- NM_001385290.1:c.1927A>G
- ClinVar RefSeq Alternation Syntax
- NM_001385286.1:c.1912A>G
- ClinVar RefSeq Alternation Syntax
- NM_001385284.1:c.1927A>G
- ClinVar RefSeq Alternation Syntax
- NM_000222.3:c.1924A>G
- ClinVar RefSeq Alternation Syntax
- NM_001385285.1:c.1924A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014880
- ClinVar Disease
- Gastrointestinal stromal tumor, familial
- Observed Origin Sample
- germline
- Pubmed
- 11073817
Drugs