Annotation Detail
Information
- Associated Genes
- DCX
- Associated Variants
-
DCX p.Arg196His (p.R196H)
(
ENST00000358070.10,
ENST00000356220.8,
ENST00000488120.2,
ENST00000496551.2,
ENST00000371993.7,
ENST00000635795.1,
ENST00000636035.2,
ENST00000637453.1,
ENST00000637570.1,
ENST00000680476.1 )
DCX p.Arg196His (p.R196H) ( ENST00000356220.8, ENST00000358070.10, ENST00000371993.7, ENST00000488120.2, ENST00000496551.2, ENST00000635795.1, ENST00000636035.2, ENST00000637453.1, ENST00000637570.1, ENST00000680476.1 ) - Associated Disease
- Lissencephaly type 1 due to doublecortin gene mutation
- Source Database
- ClinVar
- Description
- NM_001195553.2(DCX):c.587G>A (p.Arg196His) AND Lissencephaly type 1 due to doublecortin gene mutation
- ClinVar Allele ID
- 26648
- ClinVar RefSeq Alternation Syntax
- NM_001369374.1:c.587G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369370.1:c.587G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369373.1:c.587G>A
- ClinVar RefSeq Alternation Syntax
- NM_178152.3:c.587G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369372.1:c.587G>A
- ClinVar RefSeq Alternation Syntax
- NM_178151.3:c.587G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369371.1:c.587G>A
- ClinVar RefSeq Alternation Syntax
- NM_178153.3:c.587G>A
- ClinVar RefSeq Alternation Syntax
- NM_000555.3:c.830G>A
- ClinVar RefSeq Alternation Syntax
- NM_001195553.2:c.587G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012373
- ClinVar Disease
- Lissencephaly type 1 due to doublecortin gene mutation
- Observed Origin Sample
- germline
- Pubmed
- 11468322
Drugs