Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Val560Ala (p.V560A)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Val560Ala (p.V560A) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- cutaneous mastocytosis
- Source Database
- ClinVar
- Description
- NM_000222.3(KIT):c.1676T>C (p.Val559Ala) AND Cutaneous mastocytosis
- ClinVar Allele ID
- 28904
- ClinVar RefSeq Alternation Syntax
- NM_000222.3:c.1676T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385284.1:c.1679T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385286.1:c.1664T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385290.1:c.1679T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385292.1:c.1667T>C
- ClinVar RefSeq Alternation Syntax
- NM_001093772.2:c.1664T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385288.1:c.1667T>C
- ClinVar RefSeq Alternation Syntax
- NM_001385285.1:c.1676T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000663345
- ClinVar Disease
- Cutaneous mastocytosis
- Observed Origin Sample
- germline
- Pubmed
- 11505412
Drugs