Annotation Detail
Information
- Associated Genes
- KRIT1
- Associated Variants
-
KRIT1 p.Asp318ValfsTer23 (p.D318Vfs*23), ENSG00000289027 p.Asp318ValfsTer23 (p.D318Vfs*23), ENSG00000285953 p.Asp318ValfsTer23 (p.D318Vfs*23)
(
ENST00000340022.6,
ENST00000394503.6,
ENST00000394505.7,
ENST00000394507.5,
ENST00000412043.6,
ENST00000425073.2,
ENST00000444960.6,
ENST00000454017.6,
ENST00000458177.7,
ENST00000686094.1,
ENST00000686527.1,
ENST00000687135.1,
ENST00000688404.1,
ENST00000688665.1,
ENST00000689556.1,
ENST00000690529.1,
ENST00000690720.1,
ENST00000690908.1,
ENST00000692157.1,
ENST00000692807.1 )
KRIT1 p.Asp318ValfsTer23 (p.D318Vfs*23), ENSG00000289027 p.Asp318ValfsTer23 (p.D318Vfs*23), ENSG00000285953 p.Asp318ValfsTer23 (p.D318Vfs*23) ( ENST00000340022.6, ENST00000394503.6, ENST00000394505.7, ENST00000394507.5, ENST00000412043.6, ENST00000425073.2, ENST00000444960.6, ENST00000454017.6, ENST00000458177.7, ENST00000686094.1, ENST00000686527.1, ENST00000687135.1, ENST00000688404.1, ENST00000688665.1, ENST00000689556.1, ENST00000690529.1, ENST00000690720.1, ENST00000690908.1, ENST00000692157.1, ENST00000692807.1 ) - Associated Disease
- cerebral cavernous malformation 1
- Source Database
- ClinVar
- Description
- NM_194454.3(KRIT1):c.953_956del (p.Asp318fs) AND Cerebral cavernous malformation 1
- ClinVar Allele ID
- 1862801
- ClinVar RefSeq Alternation Syntax
- NM_001350675.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350688.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_194456.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350669.1:c.845+323_845+326del
- ClinVar RefSeq Alternation Syntax
- NM_001350696.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350683.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350692.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350679.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350674.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350682.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350687.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350691.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350678.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350695.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350670.1:c.845+323_845+326del
- ClinVar RefSeq Alternation Syntax
- NM_001350681.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_004912.4:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350673.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350686.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350677.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350690.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350671.1:c.239_242del
- ClinVar RefSeq Alternation Syntax
- NM_001350694.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001013406.2:c.845+323_845+326del
- ClinVar RefSeq Alternation Syntax
- NM_001350685.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350672.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_194455.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350684.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350689.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350676.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350697.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350680.1:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_194454.3:c.953_956del
- ClinVar RefSeq Alternation Syntax
- NM_001350693.1:c.953_956del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-05-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002472208
- ClinVar Disease
- Cerebral cavernous malformation 1
- Observed Origin Sample
- germline
Drugs