Annotation Detail
Information
- Associated Genes
- DCX
- Associated Variants
-
DCX p.Ser47Arg (p.S47R)
(
ENST00000356220.8,
ENST00000358070.10,
ENST00000371993.7,
ENST00000488120.2,
ENST00000496551.2,
ENST00000635795.1,
ENST00000636035.2,
ENST00000637453.1,
ENST00000637570.1,
ENST00000680476.1 )
DCX p.Ser47Arg (p.S47R) ( ENST00000356220.8, ENST00000358070.10, ENST00000371993.7, ENST00000488120.2, ENST00000496551.2, ENST00000635795.1, ENST00000636035.2, ENST00000637453.1, ENST00000637570.1, ENST00000680476.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001195553.2(DCX):c.139A>C (p.Ser47Arg) AND not provided
- ClinVar Allele ID
- 26642
- ClinVar RefSeq Alternation Syntax
- NM_178151.3:c.139A>C
- ClinVar RefSeq Alternation Syntax
- NM_001369374.1:c.139A>C
- ClinVar RefSeq Alternation Syntax
- NM_178152.3:c.139A>C
- ClinVar RefSeq Alternation Syntax
- NM_178153.3:c.139A>C
- ClinVar RefSeq Alternation Syntax
- NM_001369370.1:c.139A>C
- ClinVar RefSeq Alternation Syntax
- NM_001369373.1:c.139A>C
- ClinVar RefSeq Alternation Syntax
- NM_001369371.1:c.139A>C
- ClinVar RefSeq Alternation Syntax
- NM_000555.3:c.382A>C
- ClinVar RefSeq Alternation Syntax
- NM_001369372.1:c.139A>C
- ClinVar RefSeq Alternation Syntax
- NM_001195553.2:c.139A>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-11-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001857334
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs