Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Asp817Val (p.D817V)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Asp817Val (p.D817V) ( ENST00000686011.1, ENST00000687109.1, ENST00000288135.6, ENST00000412167.7, 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.2447A>T (p.Asp816Val) AND Cutaneous mastocytosis
- ClinVar Allele ID
- 28891
- ClinVar RefSeq Alternation Syntax
- NM_001385284.1:c.2450A>T
- ClinVar RefSeq Alternation Syntax
- NM_001385290.1:c.2447A>T
- ClinVar RefSeq Alternation Syntax
- NM_001385286.1:c.2432A>T
- ClinVar RefSeq Alternation Syntax
- NM_001385292.1:c.2435A>T
- ClinVar RefSeq Alternation Syntax
- NM_001385288.1:c.2438A>T
- ClinVar RefSeq Alternation Syntax
- NM_001093772.2:c.2435A>T
- ClinVar RefSeq Alternation Syntax
- NM_000222.3:c.2447A>T
- ClinVar RefSeq Alternation Syntax
- NM_001385285.1:c.2444A>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2021-08-31
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000656676
- ClinVar Disease
- Cutaneous mastocytosis
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 19262599
- Pubmed
- 7479840
- Pubmed
- 9990072
- Pubmed
- 9827716
- Pubmed
- 11380399
- Pubmed
- 8589724
- Pubmed
- 7691885
- Pubmed
- 11493470
- Pubmed
- 19865100
Drugs