Annotation Detail
Information
- Associated Genes
- DCX
- Associated Variants
-
DCX p.Arg192Trp (p.R192W)
(
ENST00000358070.10,
ENST00000496551.2,
ENST00000371993.7,
ENST00000488120.2,
ENST00000356220.8,
ENST00000680476.1,
ENST00000635795.1,
ENST00000636035.2,
ENST00000637453.1,
ENST00000637570.1 )
DCX p.Arg192Trp (p.R192W) ( ENST00000356220.8, ENST00000358070.10, ENST00000371993.7, ENST00000488120.2, ENST00000496551.2, ENST00000635795.1, ENST00000636035.2, ENST00000637453.1, ENST00000637570.1, ENST00000680476.1 ) - Associated Disease
- Subcortical laminar heterotopia, X-linked
- Source Database
- ClinVar
- Description
- NM_001195553.2(DCX):c.574C>T (p.Arg192Trp) AND Subcortical laminar heterotopia, X-linked
- ClinVar Allele ID
- 26637
- ClinVar RefSeq Alternation Syntax
- NM_178151.3:c.574C>T
- ClinVar RefSeq Alternation Syntax
- NM_000555.3:c.817C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369374.1:c.574C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369370.1:c.574C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369373.1:c.574C>T
- ClinVar RefSeq Alternation Syntax
- NM_178152.3:c.574C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369371.1:c.574C>T
- ClinVar RefSeq Alternation Syntax
- NM_001369372.1:c.574C>T
- ClinVar RefSeq Alternation Syntax
- NM_178153.3:c.574C>T
- ClinVar RefSeq Alternation Syntax
- NM_001195553.2:c.574C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-01-09
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012358
- ClinVar Disease
- Subcortical laminar heterotopia, X-linked
- Observed Origin Sample
- germline
- Pubmed
- 9489700
- Pubmed
- 9489699
Drugs